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Gallone</h1><div class="affiliations-container fake-truncate js-profile-affiliations"><div><a class="u-tcGrayDarker" href="https://unito.academia.edu/">Università degli Studi di Torino</a>, <a class="u-tcGrayDarker" href="https://unito.academia.edu/Departments/Neuroscienze/Documents">Neuroscienze</a>, <span class="u-tcGrayDarker">MD</span></div></div></div></div><div class="sidebar-cta-container"><button class="ds2-5-button hidden profile-cta-button grow js-profile-follow-button" data-broccoli-component="user-info.follow-button" data-click-track="profile-user-info-follow-button" data-follow-user-fname="S." data-follow-user-id="32102494" data-follow-user-source="profile_button" data-has-google="false"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">add</span>Follow</button><button class="ds2-5-button hidden profile-cta-button grow js-profile-unfollow-button" data-broccoli-component="user-info.unfollow-button" 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class="ri-section"><div class="ri-section-header"><span>Interests</span><a class="ri-more-link js-profile-ri-list-card" data-click-track="profile-user-info-primary-research-interest" data-has-card-for-ri-list="32102494">View All (6)</a></div><div class="ri-tags-container"><a data-click-track="profile-user-info-expand-research-interests" data-has-card-for-ri-list="32102494" href="https://www.academia.edu/Documents/in/Molecular_Imaging"><div id="js-react-on-rails-context" style="display:none" data-rails-context="{"inMailer":false,"i18nLocale":"en","i18nDefaultLocale":"en","href":"https://unito.academia.edu/SGallone","location":"/SGallone","scheme":"https","host":"unito.academia.edu","port":null,"pathname":"/SGallone","search":null,"httpAcceptLanguage":null,"serverSide":false}"></div> <div class="js-react-on-rails-component" style="display:none" data-component-name="Pill" data-props="{"color":"gray","children":["Molecular Imaging"]}" data-trace="false" 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data-dom-id="Pill-react-component-dfdb5ce1-4947-48a1-b039-d22f3ae00c4f"></div> <div id="Pill-react-component-dfdb5ce1-4947-48a1-b039-d22f3ae00c4f"></div> </a></div></div></div></div><div class="right-panel-container"><div class="user-content-wrapper"><div class="uploads-container" id="social-redesign-work-container"><div class="upload-header"><h2 class="ds2-5-heading-sans-serif-xs">Uploads</h2></div><div class="documents-container backbone-social-profile-documents" style="width: 100%;"><div class="u-taCenter"></div><div class="profile--tab_content_container js-tab-pane tab-pane active" id="all"><div class="profile--tab_heading_container js-section-heading" data-section="Papers" id="Papers"><h3 class="profile--tab_heading_container">Papers by S. Gallone</h3></div><div class="js-work-strip profile--work_container" data-work-id="12929798"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12929798/Tumor_necrosis_factor_alpha_gene_and_cerebral_aneurysms"><img alt="Research paper thumbnail of Tumor necrosis factor-alpha gene and cerebral aneurysms" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12929798/Tumor_necrosis_factor_alpha_gene_and_cerebral_aneurysms">Tumor necrosis factor-alpha gene and cerebral aneurysms</a></div><div class="wp-workCard_item"><span>Neurosurgery</span><span>, 2007</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">The pathogenesis of intracranial aneurysms is still uncertain. In addition to atherosclerosis, im...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">The pathogenesis of intracranial aneurysms is still uncertain. In addition to atherosclerosis, immunological factors may play a role in the disease. Recent studies have suggested that tumor necrosis factor-alpha (TNF-alpha), one of the main proinflammatory cytokines, may play a key role in the formation and rupture of cerebral aneurysms. The purpose of this study is to evaluate the association of a functionally active polymorphism (-308 G&lt;A) in the TNF-alpha gene with the risk and the clinical features of aneurysmal subarachnoid hemorrhage. A total of 171 consecutive aneurysmal subarachnoid hemorrhage patients and 144 healthy controls were involved in the study. Computed tomographic scan findings were assessed by Fisher grade; clinical neurological assessment was performed using the Hunt and Hess grading system. Patients and controls were genotyped for the-308 biallelic (G&lt;A) polymorphism of the TNF-alpha gene. The TNF-alpha G allele was significantly more frequent in patients...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12929798"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12929798"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12929798; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=12929798]").text(description); $(".js-view-count[data-work-id=12929798]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 12929798; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='12929798']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 12929798, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=12929798]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12929798,"title":"Tumor necrosis factor-alpha gene and cerebral aneurysms","translated_title":"","metadata":{"abstract":"The pathogenesis of intracranial aneurysms is still uncertain. 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Computed tomographic scan findings were assessed by Fisher grade; clinical neurological assessment was performed using the Hunt and Hess grading system. Patients and controls were genotyped for the-308 biallelic (G\u0026lt;A) polymorphism of the TNF-alpha gene. 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Interleukin (IL)-1 is a proinflammatory cytokine that plays a pivotal role in both acute and chronic central nervous system injuries. To investigate whether select polymorphisms in the IL-1alpha, IL-1beta, and IL-1 receptor antagonist genes are associated with both susceptibility to and clinical characteristics of subarachnoid hemorrhage due to intracranial aneurysm rupture. Allelic and genotypic frequencies of the IL-1alpha (-889), IL-1beta (-511), and IL-1 receptor antagonist (VNTR) genes were determined in 215 patients and 155 healthy controls. Patient files were reviewed for the clinical characteristics at hospital admission and at 6-month follow-up. No association between aneurysmal subarachnoid hemorrhage susceptibility and the examined cytokine gene polymorphisms was found. Haplotype analysis did not show any significant difference between cases and controls. However, aneurysmal subarachnoid hemorrhage patients carrying the T/T genotype of the IL-1beta gene showed a significant (P = .034) increase in the Hunt and Hess scores at hospital admission and a significant (P = .026) reduction in 6-month Glasgow Outcome Scale scores. The remaining polymorphisms showed no effect on the clinical features examined. Our results do not support the hypothesis that genetic variation in select polymorphisms of the IL-1 cluster genes is associated with aneurysmal subarachnoid cerebral hemorrhage. However, the IL-1beta gene may modify disease severity and may be regarded as disease severity gene.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12929797"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12929797"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12929797; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=12929797]").text(description); $(".js-view-count[data-work-id=12929797]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 12929797; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='12929797']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 12929797, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=12929797]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12929797,"title":"Interleukin-1 Cluster Gene Polymorphisms and Aneurysmal Subarachnoid Hemorrhage","translated_title":"","metadata":{"abstract":"Emerging data indicate that proinflammatory cytokines may be involved in the pathogenesis of intracranial aneurysms. Interleukin (IL)-1 is a proinflammatory cytokine that plays a pivotal role in both acute and chronic central nervous system injuries. To investigate whether select polymorphisms in the IL-1alpha, IL-1beta, and IL-1 receptor antagonist genes are associated with both susceptibility to and clinical characteristics of subarachnoid hemorrhage due to intracranial aneurysm rupture. Allelic and genotypic frequencies of the IL-1alpha (-889), IL-1beta (-511), and IL-1 receptor antagonist (VNTR) genes were determined in 215 patients and 155 healthy controls. Patient files were reviewed for the clinical characteristics at hospital admission and at 6-month follow-up. No association between aneurysmal subarachnoid hemorrhage susceptibility and the examined cytokine gene polymorphisms was found. Haplotype analysis did not show any significant difference between cases and controls. However, aneurysmal subarachnoid hemorrhage patients carrying the T/T genotype of the IL-1beta gene showed a significant (P = .034) increase in the Hunt and Hess scores at hospital admission and a significant (P = .026) reduction in 6-month Glasgow Outcome Scale scores. The remaining polymorphisms showed no effect on the clinical features examined. Our results do not support the hypothesis that genetic variation in select polymorphisms of the IL-1 cluster genes is associated with aneurysmal subarachnoid cerebral hemorrhage. However, the IL-1beta gene may modify disease severity and may be regarded as disease severity gene.","publication_date":{"day":null,"month":null,"year":2010,"errors":{}},"publication_name":"Neurosurgery"},"translated_abstract":"Emerging data indicate that proinflammatory cytokines may be involved in the pathogenesis of intracranial aneurysms. Interleukin (IL)-1 is a proinflammatory cytokine that plays a pivotal role in both acute and chronic central nervous system injuries. To investigate whether select polymorphisms in the IL-1alpha, IL-1beta, and IL-1 receptor antagonist genes are associated with both susceptibility to and clinical characteristics of subarachnoid hemorrhage due to intracranial aneurysm rupture. Allelic and genotypic frequencies of the IL-1alpha (-889), IL-1beta (-511), and IL-1 receptor antagonist (VNTR) genes were determined in 215 patients and 155 healthy controls. Patient files were reviewed for the clinical characteristics at hospital admission and at 6-month follow-up. No association between aneurysmal subarachnoid hemorrhage susceptibility and the examined cytokine gene polymorphisms was found. Haplotype analysis did not show any significant difference between cases and controls. However, aneurysmal subarachnoid hemorrhage patients carrying the T/T genotype of the IL-1beta gene showed a significant (P = .034) increase in the Hunt and Hess scores at hospital admission and a significant (P = .026) reduction in 6-month Glasgow Outcome Scale scores. The remaining polymorphisms showed no effect on the clinical features examined. Our results do not support the hypothesis that genetic variation in select polymorphisms of the IL-1 cluster genes is associated with aneurysmal subarachnoid cerebral hemorrhage. However, the IL-1beta gene may modify disease severity and may be regarded as disease severity gene.","internal_url":"https://www.academia.edu/12929797/Interleukin_1_Cluster_Gene_Polymorphisms_and_Aneurysmal_Subarachnoid_Hemorrhage","translated_internal_url":"","created_at":"2015-06-11T09:21:01.539-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":32102494,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[{"id":874171,"work_id":12929797,"tagging_user_id":32102494,"tagged_user_id":null,"co_author_invite_id":277477,"email":"a***i@unito.it","display_order":null,"name":"Alessandro Ducati","title":"Interleukin-1 Cluster Gene Polymorphisms and Aneurysmal Subarachnoid Hemorrhage"},{"id":874161,"work_id":12929797,"tagging_user_id":32102494,"tagged_user_id":31892095,"co_author_invite_id":null,"email":"i***o@unito.it","display_order":null,"name":"Innocenzo Rainero","title":"Interleukin-1 Cluster Gene Polymorphisms and Aneurysmal Subarachnoid Hemorrhage"},{"id":874175,"work_id":12929797,"tagging_user_id":32102494,"tagged_user_id":32055065,"co_author_invite_id":null,"email":"l***i@unito.it","affiliation":"Università degli Studi di Torino","display_order":null,"name":"L. Pinessi","title":"Interleukin-1 Cluster Gene Polymorphisms and Aneurysmal Subarachnoid Hemorrhage"},{"id":874157,"work_id":12929797,"tagging_user_id":32102494,"tagged_user_id":null,"co_author_invite_id":277476,"email":"m***a@unito.it","display_order":null,"name":"Marco Fontanella","title":"Interleukin-1 Cluster Gene Polymorphisms and Aneurysmal Subarachnoid Hemorrhage"},{"id":874166,"work_id":12929797,"tagging_user_id":32102494,"tagged_user_id":66963732,"co_author_invite_id":299255,"email":"r***o@uniss.it","display_order":null,"name":"Salvatore Rubino","title":"Interleukin-1 Cluster Gene Polymorphisms and Aneurysmal Subarachnoid Hemorrhage"}],"downloadable_attachments":[],"slug":"Interleukin_1_Cluster_Gene_Polymorphisms_and_Aneurysmal_Subarachnoid_Hemorrhage","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":32102494,"first_name":"S.","middle_initials":"","last_name":"Gallone","page_name":"SGallone","domain_name":"unito","created_at":"2015-06-11T09:20:39.902-07:00","display_name":"S. Gallone","url":"https://unito.academia.edu/SGallone"},"attachments":[],"research_interests":[{"id":650,"name":"Neurosurgery","url":"https://www.academia.edu/Documents/in/Neurosurgery"},{"id":159240,"name":"Subarachnoid hemorrhage","url":"https://www.academia.edu/Documents/in/Subarachnoid_hemorrhage"},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences"},{"id":289271,"name":"Aged","url":"https://www.academia.edu/Documents/in/Aged"},{"id":306990,"name":"Gene Polymorphism","url":"https://www.academia.edu/Documents/in/Gene_Polymorphism"},{"id":372410,"name":"Genotype","url":"https://www.academia.edu/Documents/in/Genotype"},{"id":577933,"name":"Genetic variation","url":"https://www.academia.edu/Documents/in/Genetic_variation"},{"id":1239755,"name":"Neurosciences","url":"https://www.academia.edu/Documents/in/Neurosciences"},{"id":1819399,"name":"Case Control Studies","url":"https://www.academia.edu/Documents/in/Case_Control_Studies"},{"id":1924712,"name":"Interleukin","url":"https://www.academia.edu/Documents/in/Interleukin"},{"id":2463800,"name":"Severity of Illness Index","url":"https://www.academia.edu/Documents/in/Severity_of_Illness_Index"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12929796"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12929796/Brain_Arteriovenous_Malformations_Are_Associated_With_Interleukin_1_Cluster_Gene_Polymorphisms"><img alt="Research paper thumbnail of Brain Arteriovenous Malformations Are Associated With Interleukin-1 Cluster Gene Polymorphisms" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12929796/Brain_Arteriovenous_Malformations_Are_Associated_With_Interleukin_1_Cluster_Gene_Polymorphisms">Brain Arteriovenous Malformations Are Associated With Interleukin-1 Cluster Gene Polymorphisms</a></div><div class="wp-workCard_item"><span>Neurosurgery</span><span>, 2012</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Brain arteriovenous malformations (BAVMs) are a rare but important cause of hemorrhagic stroke in...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Brain arteriovenous malformations (BAVMs) are a rare but important cause of hemorrhagic stroke in young adults. Functional polymorphisms in proinflammatory cytokines have been associated with various cerebrovascular phenotypes, including ischemic stroke, aneurysmal subarachnoid hemorrhage, and BAVM. To investigate whether functional polymorphisms in the IL-1α, IL-1β, and IL-1RN genes are associated with both susceptibility and clinical characteristics in BAVM patients. Allelic and genotypic frequencies of IL-1α (-889 C&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;T), IL-1β (-511 C&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;T), and IL-1RN (VNTR) polymorphisms were analyzed in 101 unrelated BAVM patients and in 210 healthy subjects. Main clinical characteristics of the disease were compared according to different genotypes. Both allelic and genotypic frequencies of IL-1α -889 C&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;T showed a significant association with BAVM (P &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; .001). The carriage of the T allele was related to a 2.47 increased risk of BAVM (odds ratio, 2.47; 95% confidence interval: 1.72-3.56). Allelic and genotypic frequencies of IL-1RN VNTR were different between cases and controls (P = .009). Allele 1 was associated with about a twofold increased disease risk (95% confidence interval: 2.01-5.58). Haplotype analyses confirmed these findings. Several clinical characteristics of the disease were significantly modified by IL-1α and IL-1β genotypes. Our data suggest that functional polymorphisms within the IL-1 complex gene are associated with BAVMs and influence the clinical characteristics of the disease, supporting a role for proinflammatory cytokines in disease etiopathogenesis.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12929796"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12929796"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12929796; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=12929796]").text(description); $(".js-view-count[data-work-id=12929796]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 12929796; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='12929796']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 12929796, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=12929796]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12929796,"title":"Brain Arteriovenous Malformations Are Associated With Interleukin-1 Cluster Gene Polymorphisms","translated_title":"","metadata":{"abstract":"Brain arteriovenous malformations (BAVMs) are a rare but important cause of hemorrhagic stroke in young adults. Functional polymorphisms in proinflammatory cytokines have been associated with various cerebrovascular phenotypes, including ischemic stroke, aneurysmal subarachnoid hemorrhage, and BAVM. To investigate whether functional polymorphisms in the IL-1α, IL-1β, and IL-1RN genes are associated with both susceptibility and clinical characteristics in BAVM patients. Allelic and genotypic frequencies of IL-1α (-889 C\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;T), IL-1β (-511 C\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;T), and IL-1RN (VNTR) polymorphisms were analyzed in 101 unrelated BAVM patients and in 210 healthy subjects. Main clinical characteristics of the disease were compared according to different genotypes. Both allelic and genotypic frequencies of IL-1α -889 C\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;T showed a significant association with BAVM (P \u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; .001). The carriage of the T allele was related to a 2.47 increased risk of BAVM (odds ratio, 2.47; 95% confidence interval: 1.72-3.56). Allelic and genotypic frequencies of IL-1RN VNTR were different between cases and controls (P = .009). Allele 1 was associated with about a twofold increased disease risk (95% confidence interval: 2.01-5.58). Haplotype analyses confirmed these findings. Several clinical characteristics of the disease were significantly modified by IL-1α and IL-1β genotypes. Our data suggest that functional polymorphisms within the IL-1 complex gene are associated with BAVMs and influence the clinical characteristics of the disease, supporting a role for proinflammatory cytokines in disease etiopathogenesis.","publication_date":{"day":null,"month":null,"year":2012,"errors":{}},"publication_name":"Neurosurgery"},"translated_abstract":"Brain arteriovenous malformations (BAVMs) are a rare but important cause of hemorrhagic stroke in young adults. Functional polymorphisms in proinflammatory cytokines have been associated with various cerebrovascular phenotypes, including ischemic stroke, aneurysmal subarachnoid hemorrhage, and BAVM. To investigate whether functional polymorphisms in the IL-1α, IL-1β, and IL-1RN genes are associated with both susceptibility and clinical characteristics in BAVM patients. Allelic and genotypic frequencies of IL-1α (-889 C\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;T), IL-1β (-511 C\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;T), and IL-1RN (VNTR) polymorphisms were analyzed in 101 unrelated BAVM patients and in 210 healthy subjects. Main clinical characteristics of the disease were compared according to different genotypes. Both allelic and genotypic frequencies of IL-1α -889 C\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;T showed a significant association with BAVM (P \u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; .001). The carriage of the T allele was related to a 2.47 increased risk of BAVM (odds ratio, 2.47; 95% confidence interval: 1.72-3.56). Allelic and genotypic frequencies of IL-1RN VNTR were different between cases and controls (P = .009). Allele 1 was associated with about a twofold increased disease risk (95% confidence interval: 2.01-5.58). Haplotype analyses confirmed these findings. Several clinical characteristics of the disease were significantly modified by IL-1α and IL-1β genotypes. Our data suggest that functional polymorphisms within the IL-1 complex gene are associated with BAVMs and influence the clinical characteristics of the disease, supporting a role for proinflammatory cytokines in disease etiopathogenesis.","internal_url":"https://www.academia.edu/12929796/Brain_Arteriovenous_Malformations_Are_Associated_With_Interleukin_1_Cluster_Gene_Polymorphisms","translated_internal_url":"","created_at":"2015-06-11T09:21:01.150-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":32102494,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[{"id":874160,"work_id":12929796,"tagging_user_id":32102494,"tagged_user_id":null,"co_author_invite_id":277476,"email":"m***a@unito.it","display_order":null,"name":"Marco Fontanella","title":"Brain Arteriovenous Malformations Are Associated With Interleukin-1 Cluster Gene Polymorphisms"},{"id":874174,"work_id":12929796,"tagging_user_id":32102494,"tagged_user_id":null,"co_author_invite_id":277477,"email":"a***i@unito.it","display_order":null,"name":"Alessandro Ducati","title":"Brain Arteriovenous Malformations Are Associated With Interleukin-1 Cluster Gene Polymorphisms"},{"id":874178,"work_id":12929796,"tagging_user_id":32102494,"tagged_user_id":32055065,"co_author_invite_id":null,"email":"l***i@unito.it","affiliation":"Università degli Studi di Torino","display_order":null,"name":"L. Pinessi","title":"Brain Arteriovenous Malformations Are Associated With Interleukin-1 Cluster Gene Polymorphisms"},{"id":874164,"work_id":12929796,"tagging_user_id":32102494,"tagged_user_id":31892095,"co_author_invite_id":null,"email":"i***o@unito.it","display_order":null,"name":"Innocenzo Rainero","title":"Brain Arteriovenous Malformations Are Associated With Interleukin-1 Cluster Gene Polymorphisms"},{"id":874169,"work_id":12929796,"tagging_user_id":32102494,"tagged_user_id":66963732,"co_author_invite_id":299255,"email":"r***o@uniss.it","display_order":null,"name":"Salvatore Rubino","title":"Brain Arteriovenous Malformations Are Associated With Interleukin-1 Cluster Gene Polymorphisms"}],"downloadable_attachments":[],"slug":"Brain_Arteriovenous_Malformations_Are_Associated_With_Interleukin_1_Cluster_Gene_Polymorphisms","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":32102494,"first_name":"S.","middle_initials":"","last_name":"Gallone","page_name":"SGallone","domain_name":"unito","created_at":"2015-06-11T09:20:39.902-07:00","display_name":"S. Gallone","url":"https://unito.academia.edu/SGallone"},"attachments":[],"research_interests":[{"id":650,"name":"Neurosurgery","url":"https://www.academia.edu/Documents/in/Neurosurgery"},{"id":125069,"name":"Genetic Association Studies","url":"https://www.academia.edu/Documents/in/Genetic_Association_Studies"},{"id":131237,"name":"Cluster Analysis","url":"https://www.academia.edu/Documents/in/Cluster_Analysis"},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences"},{"id":372410,"name":"Genotype","url":"https://www.academia.edu/Documents/in/Genotype"},{"id":1159957,"name":"Intracranial Arteriovenous Malformations","url":"https://www.academia.edu/Documents/in/Intracranial_Arteriovenous_Malformations"},{"id":1239755,"name":"Neurosciences","url":"https://www.academia.edu/Documents/in/Neurosciences"},{"id":1924712,"name":"Interleukin","url":"https://www.academia.edu/Documents/in/Interleukin"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12929795"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12929795/NOTCH3_gene_mutations_in_subjects_clinically_suspected_of_CADASIL"><img alt="Research paper thumbnail of NOTCH3 gene mutations in subjects clinically suspected of CADASIL" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12929795/NOTCH3_gene_mutations_in_subjects_clinically_suspected_of_CADASIL">NOTCH3 gene mutations in subjects clinically suspected of CADASIL</a></div><div class="wp-workCard_item"><span>Journal of the Neurological Sciences</span><span>, 2011</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADAS...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebrovascular disease due to mutations involving loss or gain of a cysteine residue in the NOTCH3 gene. A cluster of mutations around exons 3 and 4 was originally reported. Identification of pathogenic mutation is important for diagnostic confirmation of the disease, however genetic counselling and testing of relatives at risk is critical in mutation carriers. Mutation analysis of the NOTCH3 gene was performed through direct sequencing in 140 patients with clinical suspicion of CADASIL. Patients underwent genetic counselling pre and post testing. The 2-23 exons containing all EGF-like domains were screened. 14 familial forms of the disease have been identified with 14 different causative mutations in exons 2, 3, 4, 5, 7, 10, 14, 19, 20 and 22 of the NOTCH3 gene; no pathogenetic mutations have been identified in exons 6 and 8; several genetic variations both in coding as well as in intronic regions were identified too. Our data confirm the importance of screening the whole EGF-like domains region of NOTCH3 gene for the molecular diagnosis of CADASIL among the Italian population too. Moreover genetic variants different from loss or gain of a cysteine residue are identified and presented.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12929795"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12929795"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12929795; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=12929795]").text(description); $(".js-view-count[data-work-id=12929795]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 12929795; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='12929795']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 12929795, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=12929795]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12929795,"title":"NOTCH3 gene mutations in subjects clinically suspected of CADASIL","translated_title":"","metadata":{"abstract":"Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebrovascular disease due to mutations involving loss or gain of a cysteine residue in the NOTCH3 gene. A cluster of mutations around exons 3 and 4 was originally reported. Identification of pathogenic mutation is important for diagnostic confirmation of the disease, however genetic counselling and testing of relatives at risk is critical in mutation carriers. Mutation analysis of the NOTCH3 gene was performed through direct sequencing in 140 patients with clinical suspicion of CADASIL. Patients underwent genetic counselling pre and post testing. The 2-23 exons containing all EGF-like domains were screened. 14 familial forms of the disease have been identified with 14 different causative mutations in exons 2, 3, 4, 5, 7, 10, 14, 19, 20 and 22 of the NOTCH3 gene; no pathogenetic mutations have been identified in exons 6 and 8; several genetic variations both in coding as well as in intronic regions were identified too. Our data confirm the importance of screening the whole EGF-like domains region of NOTCH3 gene for the molecular diagnosis of CADASIL among the Italian population too. Moreover genetic variants different from loss or gain of a cysteine residue are identified and presented.","publication_date":{"day":null,"month":null,"year":2011,"errors":{}},"publication_name":"Journal of the Neurological Sciences"},"translated_abstract":"Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebrovascular disease due to mutations involving loss or gain of a cysteine residue in the NOTCH3 gene. A cluster of mutations around exons 3 and 4 was originally reported. Identification of pathogenic mutation is important for diagnostic confirmation of the disease, however genetic counselling and testing of relatives at risk is critical in mutation carriers. Mutation analysis of the NOTCH3 gene was performed through direct sequencing in 140 patients with clinical suspicion of CADASIL. Patients underwent genetic counselling pre and post testing. The 2-23 exons containing all EGF-like domains were screened. 14 familial forms of the disease have been identified with 14 different causative mutations in exons 2, 3, 4, 5, 7, 10, 14, 19, 20 and 22 of the NOTCH3 gene; no pathogenetic mutations have been identified in exons 6 and 8; several genetic variations both in coding as well as in intronic regions were identified too. Our data confirm the importance of screening the whole EGF-like domains region of NOTCH3 gene for the molecular diagnosis of CADASIL among the Italian population too. Moreover genetic variants different from loss or gain of a cysteine residue are identified and presented.","internal_url":"https://www.academia.edu/12929795/NOTCH3_gene_mutations_in_subjects_clinically_suspected_of_CADASIL","translated_internal_url":"","created_at":"2015-06-11T09:21:00.992-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":32102494,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[{"id":874155,"work_id":12929795,"tagging_user_id":32102494,"tagged_user_id":null,"co_author_invite_id":309726,"email":"a***1@hotmail.com","display_order":null,"name":"Laura Adobbati","title":"NOTCH3 gene mutations in subjects clinically suspected of CADASIL"},{"id":874156,"work_id":12929795,"tagging_user_id":32102494,"tagged_user_id":null,"co_author_invite_id":309727,"email":"e***i@ospedaleniguarda.it","display_order":null,"name":"Elio Agostoni","title":"NOTCH3 gene mutations in subjects clinically suspected of CADASIL"}],"downloadable_attachments":[],"slug":"NOTCH3_gene_mutations_in_subjects_clinically_suspected_of_CADASIL","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":32102494,"first_name":"S.","middle_initials":"","last_name":"Gallone","page_name":"SGallone","domain_name":"unito","created_at":"2015-06-11T09:20:39.902-07:00","display_name":"S. Gallone","url":"https://unito.academia.edu/SGallone"},"attachments":[],"research_interests":[{"id":45213,"name":"Italy","url":"https://www.academia.edu/Documents/in/Italy"},{"id":83130,"name":"genetic Counselling","url":"https://www.academia.edu/Documents/in/genetic_Counselling"},{"id":91905,"name":"Cerebrovascular Disease","url":"https://www.academia.edu/Documents/in/Cerebrovascular_Disease"},{"id":133057,"name":"Young Adult","url":"https://www.academia.edu/Documents/in/Young_Adult"},{"id":161176,"name":"The","url":"https://www.academia.edu/Documents/in/The"},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences"},{"id":289271,"name":"Aged","url":"https://www.academia.edu/Documents/in/Aged"},{"id":385834,"name":"CADASIL","url":"https://www.academia.edu/Documents/in/CADASIL"},{"id":577933,"name":"Genetic variation","url":"https://www.academia.edu/Documents/in/Genetic_variation"},{"id":894908,"name":"Amino Acid Substitution Rates","url":"https://www.academia.edu/Documents/in/Amino_Acid_Substitution_Rates"},{"id":1239755,"name":"Neurosciences","url":"https://www.academia.edu/Documents/in/Neurosciences"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12929794"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12929794/Interleukin_6_gene_polymorphisms_are_not_associated_with_aneurysmal_subarachnoid_haemorrhage_in_an_Italian_population"><img alt="Research paper thumbnail of Interleukin 6 gene polymorphisms are not associated with aneurysmal subarachnoid haemorrhage in an Italian population" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12929794/Interleukin_6_gene_polymorphisms_are_not_associated_with_aneurysmal_subarachnoid_haemorrhage_in_an_Italian_population">Interleukin 6 gene polymorphisms are not associated with aneurysmal subarachnoid haemorrhage in an Italian population</a></div><div class="wp-workCard_item"><span>Journal of Neurology, Neurosurgery & Psychiatry</span><span>, 2008</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Several lines of evidence indicate a role for inflammatory processes in the development of cerebr...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Several lines of evidence indicate a role for inflammatory processes in the development of cerebral aneurysms. Recently, polymorphisms in the promoter region of the interleukin 6 (IL6) gene were shown to be associated with intracranial aneurysmal disease. The purpose of this study was to verify the association of two functionally active polymorphisms (-174 G&amp;gt;C and -572 G&amp;gt;C) in the promoter region of the IL6 gene with the risk and clinical features of aneurysmal subarachnoid haemorrhage (SAH) in an Italian population. A total of 179 consecutive aneurysmal SAH patients and 156 healthy controls were involved in the study. Cases and controls were genotyped for the -174 G&amp;lt;C and the -572 G&amp;lt;C biallelic polymorphisms of the IL6 gene. The frequencies of different promoter haplotypes were compared between cases and controls. Allelic and genotypic frequencies of the examined polymorphism were not significantly different between cases and controls. Inferred haplotypes were not significantly different in both groups. Finally, the different IL6 genotypes did not seem to significantly modify the main clinical features of the disease. Our study did not confirm the association between functionally active polymorphisms in the IL6 gene and the risk of aneurysmal SAH in an Italian population. Additional studies in different populations are warranted to clarify the role of the IL6 gene in the pathogenesis of aneurysmal SAH.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12929794"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12929794"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12929794; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=12929794]").text(description); $(".js-view-count[data-work-id=12929794]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 12929794; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='12929794']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 12929794, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=12929794]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12929794,"title":"Interleukin 6 gene polymorphisms are not associated with aneurysmal subarachnoid haemorrhage in an Italian population","translated_title":"","metadata":{"abstract":"Several lines of evidence indicate a role for inflammatory processes in the development of cerebral aneurysms. Recently, polymorphisms in the promoter region of the interleukin 6 (IL6) gene were shown to be associated with intracranial aneurysmal disease. The purpose of this study was to verify the association of two functionally active polymorphisms (-174 G\u0026amp;gt;C and -572 G\u0026amp;gt;C) in the promoter region of the IL6 gene with the risk and clinical features of aneurysmal subarachnoid haemorrhage (SAH) in an Italian population. A total of 179 consecutive aneurysmal SAH patients and 156 healthy controls were involved in the study. Cases and controls were genotyped for the -174 G\u0026amp;lt;C and the -572 G\u0026amp;lt;C biallelic polymorphisms of the IL6 gene. The frequencies of different promoter haplotypes were compared between cases and controls. Allelic and genotypic frequencies of the examined polymorphism were not significantly different between cases and controls. Inferred haplotypes were not significantly different in both groups. Finally, the different IL6 genotypes did not seem to significantly modify the main clinical features of the disease. Our study did not confirm the association between functionally active polymorphisms in the IL6 gene and the risk of aneurysmal SAH in an Italian population. Additional studies in different populations are warranted to clarify the role of the IL6 gene in the pathogenesis of aneurysmal SAH.","publication_date":{"day":null,"month":null,"year":2008,"errors":{}},"publication_name":"Journal of Neurology, Neurosurgery \u0026 Psychiatry"},"translated_abstract":"Several lines of evidence indicate a role for inflammatory processes in the development of cerebral aneurysms. Recently, polymorphisms in the promoter region of the interleukin 6 (IL6) gene were shown to be associated with intracranial aneurysmal disease. The purpose of this study was to verify the association of two functionally active polymorphisms (-174 G\u0026amp;gt;C and -572 G\u0026amp;gt;C) in the promoter region of the IL6 gene with the risk and clinical features of aneurysmal subarachnoid haemorrhage (SAH) in an Italian population. A total of 179 consecutive aneurysmal SAH patients and 156 healthy controls were involved in the study. Cases and controls were genotyped for the -174 G\u0026amp;lt;C and the -572 G\u0026amp;lt;C biallelic polymorphisms of the IL6 gene. The frequencies of different promoter haplotypes were compared between cases and controls. Allelic and genotypic frequencies of the examined polymorphism were not significantly different between cases and controls. Inferred haplotypes were not significantly different in both groups. Finally, the different IL6 genotypes did not seem to significantly modify the main clinical features of the disease. Our study did not confirm the association between functionally active polymorphisms in the IL6 gene and the risk of aneurysmal SAH in an Italian population. Additional studies in different populations are warranted to clarify the role of the IL6 gene in the pathogenesis of aneurysmal SAH.","internal_url":"https://www.academia.edu/12929794/Interleukin_6_gene_polymorphisms_are_not_associated_with_aneurysmal_subarachnoid_haemorrhage_in_an_Italian_population","translated_internal_url":"","created_at":"2015-06-11T09:21:00.907-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":32102494,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[{"id":874159,"work_id":12929794,"tagging_user_id":32102494,"tagged_user_id":null,"co_author_invite_id":277476,"email":"m***a@unito.it","display_order":null,"name":"Marco Fontanella","title":"Interleukin 6 gene polymorphisms are not associated with aneurysmal subarachnoid haemorrhage in an Italian population"},{"id":874173,"work_id":12929794,"tagging_user_id":32102494,"tagged_user_id":null,"co_author_invite_id":277477,"email":"a***i@unito.it","display_order":null,"name":"Alessandro Ducati","title":"Interleukin 6 gene polymorphisms are not associated with aneurysmal subarachnoid haemorrhage in an Italian population"},{"id":874163,"work_id":12929794,"tagging_user_id":32102494,"tagged_user_id":31892095,"co_author_invite_id":null,"email":"i***o@unito.it","display_order":null,"name":"Innocenzo Rainero","title":"Interleukin 6 gene polymorphisms are not associated with aneurysmal subarachnoid haemorrhage in an Italian population"},{"id":874177,"work_id":12929794,"tagging_user_id":32102494,"tagged_user_id":32055065,"co_author_invite_id":null,"email":"l***i@unito.it","affiliation":"Università degli Studi di Torino","display_order":null,"name":"L. Pinessi","title":"Interleukin 6 gene polymorphisms are not associated with aneurysmal subarachnoid haemorrhage in an Italian population"},{"id":874168,"work_id":12929794,"tagging_user_id":32102494,"tagged_user_id":66963732,"co_author_invite_id":299255,"email":"r***o@uniss.it","display_order":null,"name":"Salvatore Rubino","title":"Interleukin 6 gene polymorphisms are not associated with aneurysmal subarachnoid haemorrhage in an Italian population"}],"downloadable_attachments":[],"slug":"Interleukin_6_gene_polymorphisms_are_not_associated_with_aneurysmal_subarachnoid_haemorrhage_in_an_Italian_population","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":32102494,"first_name":"S.","middle_initials":"","last_name":"Gallone","page_name":"SGallone","domain_name":"unito","created_at":"2015-06-11T09:20:39.902-07:00","display_name":"S. 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Gallone</a> and <a class="" data-click-track="profile-work-strip-authors" href="https://independent.academia.edu/LSavi1">L. Savi</a></span></div><div class="wp-workCard_item"><span>Cephalalgia</span><span>, 2007</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="2a93e38772b0fbc406624285c5121e31" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":45841732,"asset_id":12929793,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/45841732/download_file?st=MTczMjc0MzE5Miw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12929793"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12929793"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12929793; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=12929793]").text(description); $(".js-view-count[data-work-id=12929793]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 12929793; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='12929793']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 12929793, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "2a93e38772b0fbc406624285c5121e31" } } $('.js-work-strip[data-work-id=12929793]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12929793,"title":"The 1246G?A polymorphism of the HCRTR2 gene is not associated with migraine","translated_title":"","metadata":{"publication_date":{"day":null,"month":null,"year":2007,"errors":{}},"publication_name":"Cephalalgia"},"translated_abstract":null,"internal_url":"https://www.academia.edu/12929793/The_1246G_A_polymorphism_of_the_HCRTR2_gene_is_not_associated_with_migraine","translated_internal_url":"","created_at":"2015-06-11T09:21:00.728-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":32102494,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[{"id":874181,"work_id":12929793,"tagging_user_id":32102494,"tagged_user_id":151095414,"co_author_invite_id":277488,"email":"l***i@cittadellasalute.to.it","display_order":0,"name":"L. 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Pinessi</a> and <a class="" data-click-track="profile-work-strip-authors" href="https://unito.academia.edu/SGallone">S. Gallone</a></span></div><div class="wp-workCard_item"><span>researchgate.net</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">... NIPGI § § NIPGI (Nuclear Imaging, Psychological, Genetic Investigation) Study Group, composed...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">... NIPGI § § NIPGI (Nuclear Imaging, Psychological, Genetic Investigation) Study Group, composed by: Bruno Baudino 1* , Federico D&amp;amp;amp;amp;amp;amp;#x27;Agata 2,4* , Giancarlo Castellano 1 , Paola Caroppo 2 , Simona Cauda 1 , Antonella Parente 1 , Matteo Manfredi 1 , Elisabetta Geda 4 , ...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12898608"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12898608"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12898608; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=12898608]").text(description); $(".js-view-count[data-work-id=12898608]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 12898608; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='12898608']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 12898608, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=12898608]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12898608,"title":"Bruno Baudino, Federico D'Agata 2, 4, Giancarlo Castellano, Paola Caroppo 2, Simona Cauda, Antonella Parente, Matteo Manfredi, Elisabetta Geda 4, Laura …","translated_title":"","metadata":{"abstract":"... 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NIPGI § § NIPGI (Nuclear Imaging, Psychological, Genetic Investigation) Study Group, composed by: Bruno Baudino 1* , Federico D\u0026amp;amp;amp;amp;amp;amp;#x27;Agata 2,4* , Giancarlo Castellano 1 , Paola Caroppo 2 , Simona Cauda 1 , Antonella Parente 1 , Matteo Manfredi 1 , Elisabetta Geda 4 , ...","internal_url":"https://www.academia.edu/12898608/Bruno_Baudino_Federico_DAgata_2_4_Giancarlo_Castellano_Paola_Caroppo_2_Simona_Cauda_Antonella_Parente_Matteo_Manfredi_Elisabetta_Geda_4_Laura_","translated_internal_url":"","created_at":"2015-06-10T02:16:56.172-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":32055065,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[{"id":836989,"work_id":12898608,"tagging_user_id":32055065,"tagged_user_id":null,"co_author_invite_id":299256,"email":"r***o@unito.it","display_order":null,"name":"R. 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Pinessi","url":"https://unito.academia.edu/LPinessi"},"attachments":[],"research_interests":[],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> </div><div class="profile--tab_content_container js-tab-pane tab-pane" data-section-id="3027451" id="papers"><div class="js-work-strip profile--work_container" data-work-id="12929798"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12929798/Tumor_necrosis_factor_alpha_gene_and_cerebral_aneurysms"><img alt="Research paper thumbnail of Tumor necrosis factor-alpha gene and cerebral aneurysms" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12929798/Tumor_necrosis_factor_alpha_gene_and_cerebral_aneurysms">Tumor necrosis factor-alpha gene and cerebral aneurysms</a></div><div class="wp-workCard_item"><span>Neurosurgery</span><span>, 2007</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">The pathogenesis of intracranial aneurysms is still uncertain. In addition to atherosclerosis, im...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">The pathogenesis of intracranial aneurysms is still uncertain. In addition to atherosclerosis, immunological factors may play a role in the disease. Recent studies have suggested that tumor necrosis factor-alpha (TNF-alpha), one of the main proinflammatory cytokines, may play a key role in the formation and rupture of cerebral aneurysms. The purpose of this study is to evaluate the association of a functionally active polymorphism (-308 G&lt;A) in the TNF-alpha gene with the risk and the clinical features of aneurysmal subarachnoid hemorrhage. A total of 171 consecutive aneurysmal subarachnoid hemorrhage patients and 144 healthy controls were involved in the study. Computed tomographic scan findings were assessed by Fisher grade; clinical neurological assessment was performed using the Hunt and Hess grading system. Patients and controls were genotyped for the-308 biallelic (G&lt;A) polymorphism of the TNF-alpha gene. The TNF-alpha G allele was significantly more frequent in patients...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12929798"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12929798"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12929798; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=12929798]").text(description); $(".js-view-count[data-work-id=12929798]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 12929798; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='12929798']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 12929798, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=12929798]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12929798,"title":"Tumor necrosis factor-alpha gene and cerebral aneurysms","translated_title":"","metadata":{"abstract":"The pathogenesis of intracranial aneurysms is still uncertain. In addition to atherosclerosis, immunological factors may play a role in the disease. Recent studies have suggested that tumor necrosis factor-alpha (TNF-alpha), one of the main proinflammatory cytokines, may play a key role in the formation and rupture of cerebral aneurysms. The purpose of this study is to evaluate the association of a functionally active polymorphism (-308 G\u0026lt;A) in the TNF-alpha gene with the risk and the clinical features of aneurysmal subarachnoid hemorrhage. A total of 171 consecutive aneurysmal subarachnoid hemorrhage patients and 144 healthy controls were involved in the study. Computed tomographic scan findings were assessed by Fisher grade; clinical neurological assessment was performed using the Hunt and Hess grading system. Patients and controls were genotyped for the-308 biallelic (G\u0026lt;A) polymorphism of the TNF-alpha gene. The TNF-alpha G allele was significantly more frequent in patients...","publication_date":{"day":null,"month":null,"year":2007,"errors":{}},"publication_name":"Neurosurgery"},"translated_abstract":"The pathogenesis of intracranial aneurysms is still uncertain. In addition to atherosclerosis, immunological factors may play a role in the disease. Recent studies have suggested that tumor necrosis factor-alpha (TNF-alpha), one of the main proinflammatory cytokines, may play a key role in the formation and rupture of cerebral aneurysms. The purpose of this study is to evaluate the association of a functionally active polymorphism (-308 G\u0026lt;A) in the TNF-alpha gene with the risk and the clinical features of aneurysmal subarachnoid hemorrhage. A total of 171 consecutive aneurysmal subarachnoid hemorrhage patients and 144 healthy controls were involved in the study. Computed tomographic scan findings were assessed by Fisher grade; clinical neurological assessment was performed using the Hunt and Hess grading system. Patients and controls were genotyped for the-308 biallelic (G\u0026lt;A) polymorphism of the TNF-alpha gene. The TNF-alpha G allele was significantly more frequent in patients...","internal_url":"https://www.academia.edu/12929798/Tumor_necrosis_factor_alpha_gene_and_cerebral_aneurysms","translated_internal_url":"","created_at":"2015-06-11T09:21:01.673-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":32102494,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[{"id":874172,"work_id":12929798,"tagging_user_id":32102494,"tagged_user_id":null,"co_author_invite_id":277477,"email":"a***i@unito.it","display_order":null,"name":"Alessandro Ducati","title":"Tumor necrosis factor-alpha gene and cerebral aneurysms"},{"id":874176,"work_id":12929798,"tagging_user_id":32102494,"tagged_user_id":32055065,"co_author_invite_id":null,"email":"l***i@unito.it","affiliation":"Università degli Studi di Torino","display_order":null,"name":"L. Pinessi","title":"Tumor necrosis factor-alpha gene and cerebral aneurysms"},{"id":874162,"work_id":12929798,"tagging_user_id":32102494,"tagged_user_id":31892095,"co_author_invite_id":null,"email":"i***o@unito.it","display_order":null,"name":"Innocenzo Rainero","title":"Tumor necrosis factor-alpha gene and cerebral aneurysms"},{"id":874158,"work_id":12929798,"tagging_user_id":32102494,"tagged_user_id":null,"co_author_invite_id":277476,"email":"m***a@unito.it","display_order":null,"name":"Marco Fontanella","title":"Tumor necrosis factor-alpha gene and cerebral aneurysms"},{"id":874167,"work_id":12929798,"tagging_user_id":32102494,"tagged_user_id":66963732,"co_author_invite_id":299255,"email":"r***o@uniss.it","display_order":null,"name":"Salvatore Rubino","title":"Tumor necrosis factor-alpha gene and cerebral aneurysms"}],"downloadable_attachments":[],"slug":"Tumor_necrosis_factor_alpha_gene_and_cerebral_aneurysms","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":32102494,"first_name":"S.","middle_initials":"","last_name":"Gallone","page_name":"SGallone","domain_name":"unito","created_at":"2015-06-11T09:20:39.902-07:00","display_name":"S. Gallone","url":"https://unito.academia.edu/SGallone"},"attachments":[],"research_interests":[{"id":650,"name":"Neurosurgery","url":"https://www.academia.edu/Documents/in/Neurosurgery"},{"id":16664,"name":"Risk assessment","url":"https://www.academia.edu/Documents/in/Risk_assessment"},{"id":45213,"name":"Italy","url":"https://www.academia.edu/Documents/in/Italy"},{"id":73153,"name":"Genetic Testing","url":"https://www.academia.edu/Documents/in/Genetic_Testing"},{"id":174502,"name":"Incidence","url":"https://www.academia.edu/Documents/in/Incidence"},{"id":192721,"name":"Risk factors","url":"https://www.academia.edu/Documents/in/Risk_factors"},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences"},{"id":474029,"name":"Tumor necrosis factor-alpha","url":"https://www.academia.edu/Documents/in/Tumor_necrosis_factor-alpha"},{"id":620049,"name":"Risk Factors","url":"https://www.academia.edu/Documents/in/Risk_Factors-1"},{"id":622589,"name":"Risk Assessment","url":"https://www.academia.edu/Documents/in/Risk_Assessment-2"},{"id":1029004,"name":"Tumor Necrosis Factor–α (TNF)","url":"https://www.academia.edu/Documents/in/Tumor_Necrosis_Factor-_TNF_"},{"id":1159938,"name":"Cerebral Aneurysm","url":"https://www.academia.edu/Documents/in/Cerebral_Aneurysm"},{"id":1239755,"name":"Neurosciences","url":"https://www.academia.edu/Documents/in/Neurosciences"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12929797"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12929797/Interleukin_1_Cluster_Gene_Polymorphisms_and_Aneurysmal_Subarachnoid_Hemorrhage"><img alt="Research paper thumbnail of Interleukin-1 Cluster Gene Polymorphisms and Aneurysmal Subarachnoid Hemorrhage" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12929797/Interleukin_1_Cluster_Gene_Polymorphisms_and_Aneurysmal_Subarachnoid_Hemorrhage">Interleukin-1 Cluster Gene Polymorphisms and Aneurysmal Subarachnoid Hemorrhage</a></div><div class="wp-workCard_item"><span>Neurosurgery</span><span>, 2010</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Emerging data indicate that proinflammatory cytokines may be involved in the pathogenesis of intr...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Emerging data indicate that proinflammatory cytokines may be involved in the pathogenesis of intracranial aneurysms. Interleukin (IL)-1 is a proinflammatory cytokine that plays a pivotal role in both acute and chronic central nervous system injuries. To investigate whether select polymorphisms in the IL-1alpha, IL-1beta, and IL-1 receptor antagonist genes are associated with both susceptibility to and clinical characteristics of subarachnoid hemorrhage due to intracranial aneurysm rupture. Allelic and genotypic frequencies of the IL-1alpha (-889), IL-1beta (-511), and IL-1 receptor antagonist (VNTR) genes were determined in 215 patients and 155 healthy controls. Patient files were reviewed for the clinical characteristics at hospital admission and at 6-month follow-up. No association between aneurysmal subarachnoid hemorrhage susceptibility and the examined cytokine gene polymorphisms was found. Haplotype analysis did not show any significant difference between cases and controls. However, aneurysmal subarachnoid hemorrhage patients carrying the T/T genotype of the IL-1beta gene showed a significant (P = .034) increase in the Hunt and Hess scores at hospital admission and a significant (P = .026) reduction in 6-month Glasgow Outcome Scale scores. The remaining polymorphisms showed no effect on the clinical features examined. Our results do not support the hypothesis that genetic variation in select polymorphisms of the IL-1 cluster genes is associated with aneurysmal subarachnoid cerebral hemorrhage. However, the IL-1beta gene may modify disease severity and may be regarded as disease severity gene.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12929797"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12929797"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12929797; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=12929797]").text(description); $(".js-view-count[data-work-id=12929797]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 12929797; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='12929797']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 12929797, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=12929797]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12929797,"title":"Interleukin-1 Cluster Gene Polymorphisms and Aneurysmal Subarachnoid Hemorrhage","translated_title":"","metadata":{"abstract":"Emerging data indicate that proinflammatory cytokines may be involved in the pathogenesis of intracranial aneurysms. Interleukin (IL)-1 is a proinflammatory cytokine that plays a pivotal role in both acute and chronic central nervous system injuries. To investigate whether select polymorphisms in the IL-1alpha, IL-1beta, and IL-1 receptor antagonist genes are associated with both susceptibility to and clinical characteristics of subarachnoid hemorrhage due to intracranial aneurysm rupture. Allelic and genotypic frequencies of the IL-1alpha (-889), IL-1beta (-511), and IL-1 receptor antagonist (VNTR) genes were determined in 215 patients and 155 healthy controls. Patient files were reviewed for the clinical characteristics at hospital admission and at 6-month follow-up. No association between aneurysmal subarachnoid hemorrhage susceptibility and the examined cytokine gene polymorphisms was found. Haplotype analysis did not show any significant difference between cases and controls. However, aneurysmal subarachnoid hemorrhage patients carrying the T/T genotype of the IL-1beta gene showed a significant (P = .034) increase in the Hunt and Hess scores at hospital admission and a significant (P = .026) reduction in 6-month Glasgow Outcome Scale scores. The remaining polymorphisms showed no effect on the clinical features examined. Our results do not support the hypothesis that genetic variation in select polymorphisms of the IL-1 cluster genes is associated with aneurysmal subarachnoid cerebral hemorrhage. However, the IL-1beta gene may modify disease severity and may be regarded as disease severity gene.","publication_date":{"day":null,"month":null,"year":2010,"errors":{}},"publication_name":"Neurosurgery"},"translated_abstract":"Emerging data indicate that proinflammatory cytokines may be involved in the pathogenesis of intracranial aneurysms. Interleukin (IL)-1 is a proinflammatory cytokine that plays a pivotal role in both acute and chronic central nervous system injuries. To investigate whether select polymorphisms in the IL-1alpha, IL-1beta, and IL-1 receptor antagonist genes are associated with both susceptibility to and clinical characteristics of subarachnoid hemorrhage due to intracranial aneurysm rupture. Allelic and genotypic frequencies of the IL-1alpha (-889), IL-1beta (-511), and IL-1 receptor antagonist (VNTR) genes were determined in 215 patients and 155 healthy controls. Patient files were reviewed for the clinical characteristics at hospital admission and at 6-month follow-up. No association between aneurysmal subarachnoid hemorrhage susceptibility and the examined cytokine gene polymorphisms was found. Haplotype analysis did not show any significant difference between cases and controls. However, aneurysmal subarachnoid hemorrhage patients carrying the T/T genotype of the IL-1beta gene showed a significant (P = .034) increase in the Hunt and Hess scores at hospital admission and a significant (P = .026) reduction in 6-month Glasgow Outcome Scale scores. The remaining polymorphisms showed no effect on the clinical features examined. Our results do not support the hypothesis that genetic variation in select polymorphisms of the IL-1 cluster genes is associated with aneurysmal subarachnoid cerebral hemorrhage. However, the IL-1beta gene may modify disease severity and may be regarded as disease severity gene.","internal_url":"https://www.academia.edu/12929797/Interleukin_1_Cluster_Gene_Polymorphisms_and_Aneurysmal_Subarachnoid_Hemorrhage","translated_internal_url":"","created_at":"2015-06-11T09:21:01.539-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":32102494,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[{"id":874171,"work_id":12929797,"tagging_user_id":32102494,"tagged_user_id":null,"co_author_invite_id":277477,"email":"a***i@unito.it","display_order":null,"name":"Alessandro Ducati","title":"Interleukin-1 Cluster Gene Polymorphisms and Aneurysmal Subarachnoid Hemorrhage"},{"id":874161,"work_id":12929797,"tagging_user_id":32102494,"tagged_user_id":31892095,"co_author_invite_id":null,"email":"i***o@unito.it","display_order":null,"name":"Innocenzo Rainero","title":"Interleukin-1 Cluster Gene Polymorphisms and Aneurysmal Subarachnoid Hemorrhage"},{"id":874175,"work_id":12929797,"tagging_user_id":32102494,"tagged_user_id":32055065,"co_author_invite_id":null,"email":"l***i@unito.it","affiliation":"Università degli Studi di Torino","display_order":null,"name":"L. Pinessi","title":"Interleukin-1 Cluster Gene Polymorphisms and Aneurysmal Subarachnoid Hemorrhage"},{"id":874157,"work_id":12929797,"tagging_user_id":32102494,"tagged_user_id":null,"co_author_invite_id":277476,"email":"m***a@unito.it","display_order":null,"name":"Marco Fontanella","title":"Interleukin-1 Cluster Gene Polymorphisms and Aneurysmal Subarachnoid Hemorrhage"},{"id":874166,"work_id":12929797,"tagging_user_id":32102494,"tagged_user_id":66963732,"co_author_invite_id":299255,"email":"r***o@uniss.it","display_order":null,"name":"Salvatore Rubino","title":"Interleukin-1 Cluster Gene Polymorphisms and Aneurysmal Subarachnoid Hemorrhage"}],"downloadable_attachments":[],"slug":"Interleukin_1_Cluster_Gene_Polymorphisms_and_Aneurysmal_Subarachnoid_Hemorrhage","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":32102494,"first_name":"S.","middle_initials":"","last_name":"Gallone","page_name":"SGallone","domain_name":"unito","created_at":"2015-06-11T09:20:39.902-07:00","display_name":"S. Gallone","url":"https://unito.academia.edu/SGallone"},"attachments":[],"research_interests":[{"id":650,"name":"Neurosurgery","url":"https://www.academia.edu/Documents/in/Neurosurgery"},{"id":159240,"name":"Subarachnoid hemorrhage","url":"https://www.academia.edu/Documents/in/Subarachnoid_hemorrhage"},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences"},{"id":289271,"name":"Aged","url":"https://www.academia.edu/Documents/in/Aged"},{"id":306990,"name":"Gene Polymorphism","url":"https://www.academia.edu/Documents/in/Gene_Polymorphism"},{"id":372410,"name":"Genotype","url":"https://www.academia.edu/Documents/in/Genotype"},{"id":577933,"name":"Genetic variation","url":"https://www.academia.edu/Documents/in/Genetic_variation"},{"id":1239755,"name":"Neurosciences","url":"https://www.academia.edu/Documents/in/Neurosciences"},{"id":1819399,"name":"Case Control Studies","url":"https://www.academia.edu/Documents/in/Case_Control_Studies"},{"id":1924712,"name":"Interleukin","url":"https://www.academia.edu/Documents/in/Interleukin"},{"id":2463800,"name":"Severity of Illness Index","url":"https://www.academia.edu/Documents/in/Severity_of_Illness_Index"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12929796"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12929796/Brain_Arteriovenous_Malformations_Are_Associated_With_Interleukin_1_Cluster_Gene_Polymorphisms"><img alt="Research paper thumbnail of Brain Arteriovenous Malformations Are Associated With Interleukin-1 Cluster Gene Polymorphisms" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12929796/Brain_Arteriovenous_Malformations_Are_Associated_With_Interleukin_1_Cluster_Gene_Polymorphisms">Brain Arteriovenous Malformations Are Associated With Interleukin-1 Cluster Gene Polymorphisms</a></div><div class="wp-workCard_item"><span>Neurosurgery</span><span>, 2012</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Brain arteriovenous malformations (BAVMs) are a rare but important cause of hemorrhagic stroke in...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Brain arteriovenous malformations (BAVMs) are a rare but important cause of hemorrhagic stroke in young adults. Functional polymorphisms in proinflammatory cytokines have been associated with various cerebrovascular phenotypes, including ischemic stroke, aneurysmal subarachnoid hemorrhage, and BAVM. To investigate whether functional polymorphisms in the IL-1α, IL-1β, and IL-1RN genes are associated with both susceptibility and clinical characteristics in BAVM patients. Allelic and genotypic frequencies of IL-1α (-889 C&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;T), IL-1β (-511 C&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;T), and IL-1RN (VNTR) polymorphisms were analyzed in 101 unrelated BAVM patients and in 210 healthy subjects. Main clinical characteristics of the disease were compared according to different genotypes. Both allelic and genotypic frequencies of IL-1α -889 C&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;T showed a significant association with BAVM (P &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; .001). The carriage of the T allele was related to a 2.47 increased risk of BAVM (odds ratio, 2.47; 95% confidence interval: 1.72-3.56). Allelic and genotypic frequencies of IL-1RN VNTR were different between cases and controls (P = .009). Allele 1 was associated with about a twofold increased disease risk (95% confidence interval: 2.01-5.58). Haplotype analyses confirmed these findings. Several clinical characteristics of the disease were significantly modified by IL-1α and IL-1β genotypes. Our data suggest that functional polymorphisms within the IL-1 complex gene are associated with BAVMs and influence the clinical characteristics of the disease, supporting a role for proinflammatory cytokines in disease etiopathogenesis.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12929796"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12929796"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12929796; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=12929796]").text(description); $(".js-view-count[data-work-id=12929796]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 12929796; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='12929796']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 12929796, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=12929796]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12929796,"title":"Brain Arteriovenous Malformations Are Associated With Interleukin-1 Cluster Gene Polymorphisms","translated_title":"","metadata":{"abstract":"Brain arteriovenous malformations (BAVMs) are a rare but important cause of hemorrhagic stroke in young adults. Functional polymorphisms in proinflammatory cytokines have been associated with various cerebrovascular phenotypes, including ischemic stroke, aneurysmal subarachnoid hemorrhage, and BAVM. To investigate whether functional polymorphisms in the IL-1α, IL-1β, and IL-1RN genes are associated with both susceptibility and clinical characteristics in BAVM patients. Allelic and genotypic frequencies of IL-1α (-889 C\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;T), IL-1β (-511 C\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;T), and IL-1RN (VNTR) polymorphisms were analyzed in 101 unrelated BAVM patients and in 210 healthy subjects. Main clinical characteristics of the disease were compared according to different genotypes. Both allelic and genotypic frequencies of IL-1α -889 C\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;T showed a significant association with BAVM (P \u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; .001). The carriage of the T allele was related to a 2.47 increased risk of BAVM (odds ratio, 2.47; 95% confidence interval: 1.72-3.56). Allelic and genotypic frequencies of IL-1RN VNTR were different between cases and controls (P = .009). Allele 1 was associated with about a twofold increased disease risk (95% confidence interval: 2.01-5.58). Haplotype analyses confirmed these findings. Several clinical characteristics of the disease were significantly modified by IL-1α and IL-1β genotypes. Our data suggest that functional polymorphisms within the IL-1 complex gene are associated with BAVMs and influence the clinical characteristics of the disease, supporting a role for proinflammatory cytokines in disease etiopathogenesis.","publication_date":{"day":null,"month":null,"year":2012,"errors":{}},"publication_name":"Neurosurgery"},"translated_abstract":"Brain arteriovenous malformations (BAVMs) are a rare but important cause of hemorrhagic stroke in young adults. Functional polymorphisms in proinflammatory cytokines have been associated with various cerebrovascular phenotypes, including ischemic stroke, aneurysmal subarachnoid hemorrhage, and BAVM. To investigate whether functional polymorphisms in the IL-1α, IL-1β, and IL-1RN genes are associated with both susceptibility and clinical characteristics in BAVM patients. Allelic and genotypic frequencies of IL-1α (-889 C\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;T), IL-1β (-511 C\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;T), and IL-1RN (VNTR) polymorphisms were analyzed in 101 unrelated BAVM patients and in 210 healthy subjects. Main clinical characteristics of the disease were compared according to different genotypes. Both allelic and genotypic frequencies of IL-1α -889 C\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;T showed a significant association with BAVM (P \u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; .001). The carriage of the T allele was related to a 2.47 increased risk of BAVM (odds ratio, 2.47; 95% confidence interval: 1.72-3.56). Allelic and genotypic frequencies of IL-1RN VNTR were different between cases and controls (P = .009). Allele 1 was associated with about a twofold increased disease risk (95% confidence interval: 2.01-5.58). Haplotype analyses confirmed these findings. Several clinical characteristics of the disease were significantly modified by IL-1α and IL-1β genotypes. Our data suggest that functional polymorphisms within the IL-1 complex gene are associated with BAVMs and influence the clinical characteristics of the disease, supporting a role for proinflammatory cytokines in disease etiopathogenesis.","internal_url":"https://www.academia.edu/12929796/Brain_Arteriovenous_Malformations_Are_Associated_With_Interleukin_1_Cluster_Gene_Polymorphisms","translated_internal_url":"","created_at":"2015-06-11T09:21:01.150-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":32102494,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[{"id":874160,"work_id":12929796,"tagging_user_id":32102494,"tagged_user_id":null,"co_author_invite_id":277476,"email":"m***a@unito.it","display_order":null,"name":"Marco Fontanella","title":"Brain Arteriovenous Malformations Are Associated With Interleukin-1 Cluster Gene Polymorphisms"},{"id":874174,"work_id":12929796,"tagging_user_id":32102494,"tagged_user_id":null,"co_author_invite_id":277477,"email":"a***i@unito.it","display_order":null,"name":"Alessandro Ducati","title":"Brain Arteriovenous Malformations Are Associated With Interleukin-1 Cluster Gene Polymorphisms"},{"id":874178,"work_id":12929796,"tagging_user_id":32102494,"tagged_user_id":32055065,"co_author_invite_id":null,"email":"l***i@unito.it","affiliation":"Università degli Studi di Torino","display_order":null,"name":"L. Pinessi","title":"Brain Arteriovenous Malformations Are Associated With Interleukin-1 Cluster Gene Polymorphisms"},{"id":874164,"work_id":12929796,"tagging_user_id":32102494,"tagged_user_id":31892095,"co_author_invite_id":null,"email":"i***o@unito.it","display_order":null,"name":"Innocenzo Rainero","title":"Brain Arteriovenous Malformations Are Associated With Interleukin-1 Cluster Gene Polymorphisms"},{"id":874169,"work_id":12929796,"tagging_user_id":32102494,"tagged_user_id":66963732,"co_author_invite_id":299255,"email":"r***o@uniss.it","display_order":null,"name":"Salvatore Rubino","title":"Brain Arteriovenous Malformations Are Associated With Interleukin-1 Cluster Gene Polymorphisms"}],"downloadable_attachments":[],"slug":"Brain_Arteriovenous_Malformations_Are_Associated_With_Interleukin_1_Cluster_Gene_Polymorphisms","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":32102494,"first_name":"S.","middle_initials":"","last_name":"Gallone","page_name":"SGallone","domain_name":"unito","created_at":"2015-06-11T09:20:39.902-07:00","display_name":"S. 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A cluster of mutations around exons 3 and 4 was originally reported. Identification of pathogenic mutation is important for diagnostic confirmation of the disease, however genetic counselling and testing of relatives at risk is critical in mutation carriers. Mutation analysis of the NOTCH3 gene was performed through direct sequencing in 140 patients with clinical suspicion of CADASIL. Patients underwent genetic counselling pre and post testing. The 2-23 exons containing all EGF-like domains were screened. 14 familial forms of the disease have been identified with 14 different causative mutations in exons 2, 3, 4, 5, 7, 10, 14, 19, 20 and 22 of the NOTCH3 gene; no pathogenetic mutations have been identified in exons 6 and 8; several genetic variations both in coding as well as in intronic regions were identified too. Our data confirm the importance of screening the whole EGF-like domains region of NOTCH3 gene for the molecular diagnosis of CADASIL among the Italian population too. Moreover genetic variants different from loss or gain of a cysteine residue are identified and presented.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12929795"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12929795"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12929795; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=12929795]").text(description); $(".js-view-count[data-work-id=12929795]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 12929795; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='12929795']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 12929795, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=12929795]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12929795,"title":"NOTCH3 gene mutations in subjects clinically suspected of CADASIL","translated_title":"","metadata":{"abstract":"Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebrovascular disease due to mutations involving loss or gain of a cysteine residue in the NOTCH3 gene. A cluster of mutations around exons 3 and 4 was originally reported. Identification of pathogenic mutation is important for diagnostic confirmation of the disease, however genetic counselling and testing of relatives at risk is critical in mutation carriers. Mutation analysis of the NOTCH3 gene was performed through direct sequencing in 140 patients with clinical suspicion of CADASIL. Patients underwent genetic counselling pre and post testing. The 2-23 exons containing all EGF-like domains were screened. 14 familial forms of the disease have been identified with 14 different causative mutations in exons 2, 3, 4, 5, 7, 10, 14, 19, 20 and 22 of the NOTCH3 gene; no pathogenetic mutations have been identified in exons 6 and 8; several genetic variations both in coding as well as in intronic regions were identified too. Our data confirm the importance of screening the whole EGF-like domains region of NOTCH3 gene for the molecular diagnosis of CADASIL among the Italian population too. Moreover genetic variants different from loss or gain of a cysteine residue are identified and presented.","publication_date":{"day":null,"month":null,"year":2011,"errors":{}},"publication_name":"Journal of the Neurological Sciences"},"translated_abstract":"Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebrovascular disease due to mutations involving loss or gain of a cysteine residue in the NOTCH3 gene. A cluster of mutations around exons 3 and 4 was originally reported. Identification of pathogenic mutation is important for diagnostic confirmation of the disease, however genetic counselling and testing of relatives at risk is critical in mutation carriers. Mutation analysis of the NOTCH3 gene was performed through direct sequencing in 140 patients with clinical suspicion of CADASIL. Patients underwent genetic counselling pre and post testing. The 2-23 exons containing all EGF-like domains were screened. 14 familial forms of the disease have been identified with 14 different causative mutations in exons 2, 3, 4, 5, 7, 10, 14, 19, 20 and 22 of the NOTCH3 gene; no pathogenetic mutations have been identified in exons 6 and 8; several genetic variations both in coding as well as in intronic regions were identified too. Our data confirm the importance of screening the whole EGF-like domains region of NOTCH3 gene for the molecular diagnosis of CADASIL among the Italian population too. Moreover genetic variants different from loss or gain of a cysteine residue are identified and presented.","internal_url":"https://www.academia.edu/12929795/NOTCH3_gene_mutations_in_subjects_clinically_suspected_of_CADASIL","translated_internal_url":"","created_at":"2015-06-11T09:21:00.992-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":32102494,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[{"id":874155,"work_id":12929795,"tagging_user_id":32102494,"tagged_user_id":null,"co_author_invite_id":309726,"email":"a***1@hotmail.com","display_order":null,"name":"Laura Adobbati","title":"NOTCH3 gene mutations in subjects clinically suspected of CADASIL"},{"id":874156,"work_id":12929795,"tagging_user_id":32102494,"tagged_user_id":null,"co_author_invite_id":309727,"email":"e***i@ospedaleniguarda.it","display_order":null,"name":"Elio Agostoni","title":"NOTCH3 gene mutations in subjects clinically suspected of CADASIL"}],"downloadable_attachments":[],"slug":"NOTCH3_gene_mutations_in_subjects_clinically_suspected_of_CADASIL","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":32102494,"first_name":"S.","middle_initials":"","last_name":"Gallone","page_name":"SGallone","domain_name":"unito","created_at":"2015-06-11T09:20:39.902-07:00","display_name":"S. Gallone","url":"https://unito.academia.edu/SGallone"},"attachments":[],"research_interests":[{"id":45213,"name":"Italy","url":"https://www.academia.edu/Documents/in/Italy"},{"id":83130,"name":"genetic Counselling","url":"https://www.academia.edu/Documents/in/genetic_Counselling"},{"id":91905,"name":"Cerebrovascular Disease","url":"https://www.academia.edu/Documents/in/Cerebrovascular_Disease"},{"id":133057,"name":"Young Adult","url":"https://www.academia.edu/Documents/in/Young_Adult"},{"id":161176,"name":"The","url":"https://www.academia.edu/Documents/in/The"},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences"},{"id":289271,"name":"Aged","url":"https://www.academia.edu/Documents/in/Aged"},{"id":385834,"name":"CADASIL","url":"https://www.academia.edu/Documents/in/CADASIL"},{"id":577933,"name":"Genetic variation","url":"https://www.academia.edu/Documents/in/Genetic_variation"},{"id":894908,"name":"Amino Acid Substitution Rates","url":"https://www.academia.edu/Documents/in/Amino_Acid_Substitution_Rates"},{"id":1239755,"name":"Neurosciences","url":"https://www.academia.edu/Documents/in/Neurosciences"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12929794"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12929794/Interleukin_6_gene_polymorphisms_are_not_associated_with_aneurysmal_subarachnoid_haemorrhage_in_an_Italian_population"><img alt="Research paper thumbnail of Interleukin 6 gene polymorphisms are not associated with aneurysmal subarachnoid haemorrhage in an Italian population" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12929794/Interleukin_6_gene_polymorphisms_are_not_associated_with_aneurysmal_subarachnoid_haemorrhage_in_an_Italian_population">Interleukin 6 gene polymorphisms are not associated with aneurysmal subarachnoid haemorrhage in an Italian population</a></div><div class="wp-workCard_item"><span>Journal of Neurology, Neurosurgery & Psychiatry</span><span>, 2008</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Several lines of evidence indicate a role for inflammatory processes in the development of cerebr...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Several lines of evidence indicate a role for inflammatory processes in the development of cerebral aneurysms. Recently, polymorphisms in the promoter region of the interleukin 6 (IL6) gene were shown to be associated with intracranial aneurysmal disease. The purpose of this study was to verify the association of two functionally active polymorphisms (-174 G&amp;gt;C and -572 G&amp;gt;C) in the promoter region of the IL6 gene with the risk and clinical features of aneurysmal subarachnoid haemorrhage (SAH) in an Italian population. A total of 179 consecutive aneurysmal SAH patients and 156 healthy controls were involved in the study. Cases and controls were genotyped for the -174 G&amp;lt;C and the -572 G&amp;lt;C biallelic polymorphisms of the IL6 gene. The frequencies of different promoter haplotypes were compared between cases and controls. Allelic and genotypic frequencies of the examined polymorphism were not significantly different between cases and controls. Inferred haplotypes were not significantly different in both groups. Finally, the different IL6 genotypes did not seem to significantly modify the main clinical features of the disease. Our study did not confirm the association between functionally active polymorphisms in the IL6 gene and the risk of aneurysmal SAH in an Italian population. Additional studies in different populations are warranted to clarify the role of the IL6 gene in the pathogenesis of aneurysmal SAH.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12929794"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12929794"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12929794; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=12929794]").text(description); $(".js-view-count[data-work-id=12929794]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 12929794; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='12929794']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 12929794, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=12929794]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12929794,"title":"Interleukin 6 gene polymorphisms are not associated with aneurysmal subarachnoid haemorrhage in an Italian population","translated_title":"","metadata":{"abstract":"Several lines of evidence indicate a role for inflammatory processes in the development of cerebral aneurysms. Recently, polymorphisms in the promoter region of the interleukin 6 (IL6) gene were shown to be associated with intracranial aneurysmal disease. The purpose of this study was to verify the association of two functionally active polymorphisms (-174 G\u0026amp;gt;C and -572 G\u0026amp;gt;C) in the promoter region of the IL6 gene with the risk and clinical features of aneurysmal subarachnoid haemorrhage (SAH) in an Italian population. A total of 179 consecutive aneurysmal SAH patients and 156 healthy controls were involved in the study. Cases and controls were genotyped for the -174 G\u0026amp;lt;C and the -572 G\u0026amp;lt;C biallelic polymorphisms of the IL6 gene. The frequencies of different promoter haplotypes were compared between cases and controls. Allelic and genotypic frequencies of the examined polymorphism were not significantly different between cases and controls. Inferred haplotypes were not significantly different in both groups. Finally, the different IL6 genotypes did not seem to significantly modify the main clinical features of the disease. Our study did not confirm the association between functionally active polymorphisms in the IL6 gene and the risk of aneurysmal SAH in an Italian population. Additional studies in different populations are warranted to clarify the role of the IL6 gene in the pathogenesis of aneurysmal SAH.","publication_date":{"day":null,"month":null,"year":2008,"errors":{}},"publication_name":"Journal of Neurology, Neurosurgery \u0026 Psychiatry"},"translated_abstract":"Several lines of evidence indicate a role for inflammatory processes in the development of cerebral aneurysms. Recently, polymorphisms in the promoter region of the interleukin 6 (IL6) gene were shown to be associated with intracranial aneurysmal disease. The purpose of this study was to verify the association of two functionally active polymorphisms (-174 G\u0026amp;gt;C and -572 G\u0026amp;gt;C) in the promoter region of the IL6 gene with the risk and clinical features of aneurysmal subarachnoid haemorrhage (SAH) in an Italian population. A total of 179 consecutive aneurysmal SAH patients and 156 healthy controls were involved in the study. Cases and controls were genotyped for the -174 G\u0026amp;lt;C and the -572 G\u0026amp;lt;C biallelic polymorphisms of the IL6 gene. The frequencies of different promoter haplotypes were compared between cases and controls. Allelic and genotypic frequencies of the examined polymorphism were not significantly different between cases and controls. Inferred haplotypes were not significantly different in both groups. Finally, the different IL6 genotypes did not seem to significantly modify the main clinical features of the disease. Our study did not confirm the association between functionally active polymorphisms in the IL6 gene and the risk of aneurysmal SAH in an Italian population. Additional studies in different populations are warranted to clarify the role of the IL6 gene in the pathogenesis of aneurysmal SAH.","internal_url":"https://www.academia.edu/12929794/Interleukin_6_gene_polymorphisms_are_not_associated_with_aneurysmal_subarachnoid_haemorrhage_in_an_Italian_population","translated_internal_url":"","created_at":"2015-06-11T09:21:00.907-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":32102494,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[{"id":874159,"work_id":12929794,"tagging_user_id":32102494,"tagged_user_id":null,"co_author_invite_id":277476,"email":"m***a@unito.it","display_order":null,"name":"Marco Fontanella","title":"Interleukin 6 gene polymorphisms are not associated with aneurysmal subarachnoid haemorrhage in an Italian population"},{"id":874173,"work_id":12929794,"tagging_user_id":32102494,"tagged_user_id":null,"co_author_invite_id":277477,"email":"a***i@unito.it","display_order":null,"name":"Alessandro Ducati","title":"Interleukin 6 gene polymorphisms are not associated with aneurysmal subarachnoid haemorrhage in an Italian population"},{"id":874163,"work_id":12929794,"tagging_user_id":32102494,"tagged_user_id":31892095,"co_author_invite_id":null,"email":"i***o@unito.it","display_order":null,"name":"Innocenzo Rainero","title":"Interleukin 6 gene polymorphisms are not associated with aneurysmal subarachnoid haemorrhage in an Italian population"},{"id":874177,"work_id":12929794,"tagging_user_id":32102494,"tagged_user_id":32055065,"co_author_invite_id":null,"email":"l***i@unito.it","affiliation":"Università degli Studi di Torino","display_order":null,"name":"L. 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Gallone</a> and <a class="" data-click-track="profile-work-strip-authors" href="https://independent.academia.edu/LSavi1">L. Savi</a></span></div><div class="wp-workCard_item"><span>Cephalalgia</span><span>, 2007</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="2a93e38772b0fbc406624285c5121e31" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":45841732,"asset_id":12929793,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/45841732/download_file?st=MTczMjc0MzE5Miw4LjIyMi4yMDguMTQ2&st=MTczMjc0MzE5Miw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12929793"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12929793"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12929793; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=12929793]").text(description); $(".js-view-count[data-work-id=12929793]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 12929793; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='12929793']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 12929793, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "2a93e38772b0fbc406624285c5121e31" } } $('.js-work-strip[data-work-id=12929793]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12929793,"title":"The 1246G?A polymorphism of the HCRTR2 gene is not associated with migraine","translated_title":"","metadata":{"publication_date":{"day":null,"month":null,"year":2007,"errors":{}},"publication_name":"Cephalalgia"},"translated_abstract":null,"internal_url":"https://www.academia.edu/12929793/The_1246G_A_polymorphism_of_the_HCRTR2_gene_is_not_associated_with_migraine","translated_internal_url":"","created_at":"2015-06-11T09:21:00.728-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":32102494,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[{"id":874181,"work_id":12929793,"tagging_user_id":32102494,"tagged_user_id":151095414,"co_author_invite_id":277488,"email":"l***i@cittadellasalute.to.it","display_order":0,"name":"L. 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Pinessi</a> and <a class="" data-click-track="profile-work-strip-authors" href="https://unito.academia.edu/SGallone">S. Gallone</a></span></div><div class="wp-workCard_item"><span>researchgate.net</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">... NIPGI § § NIPGI (Nuclear Imaging, Psychological, Genetic Investigation) Study Group, composed...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">... 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