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<!DOCTYPE html> <html > <head> <meta charset="utf-8"> <meta rel="search" type="application/opensearchdescription+xml" href="/open_search.xml" title="Academia.edu"> <meta content="width=device-width, initial-scale=1" name="viewport"> <meta name="google-site-verification" content="bKJMBZA7E43xhDOopFZkssMMkBRjvYERV-NaN4R6mrs"> <meta name="csrf-param" content="authenticity_token" /> <meta name="csrf-token" content="inTLf-G0XaYT4LZ0BPQ2ZV7Ohnk18NcecFgjvN0Tj0i3bOjB-5pjxqOW17uKoa4s66QLplFNoPF7cS3-Qo24jw" /> <meta name="citation_title" content="Evaluation of 12 Myopia-Associated Genes in Chinese Patients With High Myopia" /> <meta name="citation_publication_date" content="2015" /> <meta name="citation_journal_title" content="Investigative Ophthalmology &amp; Visual Science" /> <meta name="citation_author" content="J. Li" /> <meta name="citation_author" content="D. Jiang" /> <meta name="citation_author" content="X. Xiao" /> <meta name="citation_author" content="S. Li" /> <meta name="citation_author" content="X. Jia" /> <meta name="citation_author" content="W. Sun" /> <meta name="citation_author" content="X. Guo" /> <meta name="citation_author" content="Q. Zhang" /> <meta name="citation_volume" content="56" /> <meta name="citation_issue" content="2" /> <meta name="citation_firstpage" content="722-729" /> <meta name="citation_issn" content="0146-0404" /> <meta name="twitter:card" content="summary" /> <meta name="twitter:url" content="https://www.academia.edu/60958484/Evaluation_of_12_myopia_associated_genes_in_Chinese_patients_with_high_myopia" /> <meta name="twitter:title" content="Evaluation of 12 myopia-associated genes in Chinese patients with high myopia" /> <meta name="twitter:description" content="Two recent large-scale genome-wide association studies identified significant associations between myopia and SNPs near the PRSS56, BMP3, KCNQ5, LAMA2, TOX, TJP2, RDH5, ZIC2, RASGRF1, GJD2, RBFOX1, and SHISA6 genes. Our study is to examine whether" /> <meta name="twitter:image" content="http://a.academia-assets.com/images/twitter-card.jpeg" /> <meta property="fb:app_id" content="2369844204" /> <meta property="og:type" content="article" /> <meta property="og:url" content="https://www.academia.edu/60958484/Evaluation_of_12_myopia_associated_genes_in_Chinese_patients_with_high_myopia" /> <meta property="og:title" content="Evaluation of 12 myopia-associated genes in Chinese patients with high myopia" /> <meta property="og:image" content="http://a.academia-assets.com/images/open-graph-icons/fb-paper.gif" /> <meta property="og:description" content="Two recent large-scale genome-wide association studies identified significant associations between myopia and SNPs near the PRSS56, BMP3, KCNQ5, LAMA2, TOX, TJP2, RDH5, ZIC2, RASGRF1, GJD2, RBFOX1, and SHISA6 genes. Our study is to examine whether" /> <meta property="article:author" content="https://independent.academia.edu/QingjiongZhang" /> <meta name="description" content="Two recent large-scale genome-wide association studies identified significant associations between myopia and SNPs near the PRSS56, BMP3, KCNQ5, LAMA2, TOX, TJP2, RDH5, ZIC2, RASGRF1, GJD2, RBFOX1, and SHISA6 genes. Our study is to examine whether" /> <title>(PDF) Evaluation of 12 myopia-associated genes in Chinese patients with high myopia</title> <link rel="canonical" href="https://www.academia.edu/60958484/Evaluation_of_12_myopia_associated_genes_in_Chinese_patients_with_high_myopia" /> <script async src="https://www.googletagmanager.com/gtag/js?id=G-5VKX33P2DS"></script> <script> window.dataLayer = window.dataLayer || []; function gtag(){dataLayer.push(arguments);} gtag('js', new Date()); gtag('config', 'G-5VKX33P2DS', { cookie_domain: 'academia.edu', send_page_view: false, }); gtag('event', 'page_view', { 'controller': "single_work", 'action': "show", 'controller_action': 'single_work#show', 'logged_in': 'false', 'edge': 'unknown', // Send nil if there is no A/B test bucket, in case some records get logged // with missing data - that way we can distinguish between the two cases. // ab_test_bucket should be of the form <ab_test_name>:<bucket> 'ab_test_bucket': null, }) </script> <script> var $controller_name = 'single_work'; var $action_name = "show"; var $rails_env = 'production'; var $app_rev = 'b092bf3a3df71cf13feee7c143e83a57eb6b94fb'; var $domain = 'academia.edu'; var $app_host = "academia.edu"; var $asset_host = "academia-assets.com"; var $start_time = new Date().getTime(); var $recaptcha_key = "6LdxlRMTAAAAADnu_zyLhLg0YF9uACwz78shpjJB"; var $recaptcha_invisible_key = "6Lf3KHUUAAAAACggoMpmGJdQDtiyrjVlvGJ6BbAj"; var $disableClientRecordHit = false; </script> <script> window.require = { config: function() { return function() {} } } </script> <script> window.Aedu = window.Aedu || {}; window.Aedu.hit_data = null; window.Aedu.serverRenderTime = new Date(1739822622000); window.Aedu.timeDifference = new Date().getTime() - 1739822622000; </script> <script type="application/ld+json">{"@context":"https://schema.org","@type":"ScholarlyArticle","abstract":"Two recent large-scale genome-wide association studies identified significant associations between myopia and SNPs near the PRSS56, BMP3, KCNQ5, LAMA2, TOX, TJP2, RDH5, ZIC2, RASGRF1, GJD2, RBFOX1, and SHISA6 genes. Our study is to examine whether rare variants in these genes contribute to high myopia. Whole exome sequencing was performed on samples of 298 probands with early-onset high myopia (spherical refraction in each meridian ≤-6.00 D in both eyes; age of onset \u0026amp;amp;lt;7 years) and 195 controls (different forms of retinal degeneration including Leber congenital amaurosis, cone-rod dystrophy, and familial exudative vitroretinopathy). Potential variations in these genes were selected for further validation and comparison to the controls. Moreover, Sanger sequencing was used to evaluate the coding regions and the upstream 800 base pairs of GJD2 in 395 additional subjects with late-onset moderate to high myopia (loMHM) (spherical refraction in each meridian ≤-4.00 D; age of onset ≥7 y...","author":[{"@context":"https://schema.org","@type":"Person","name":"Qingjiong Zhang","url":"https://independent.academia.edu/QingjiongZhang"}],"contributor":[],"dateCreated":"2021-11-03","dateModified":"2021-11-03","datePublished":"2015-01-13","headline":"Evaluation of 12 myopia-associated genes in Chinese patients with high myopia","image":"https://attachments.academia-assets.com/74174947/thumbnails/1.jpg","inLanguage":"en","keywords":["Myopia","China","Adolescent","Biological Sciences","DNA","Humans","Child","Female","Male","Young Adult","Genes","Prevalence","Middle Aged","Adult","Whole Exome Sequencing","Child preschool","Medical and Health Sciences"],"publication":"Investigative ophthalmology \u0026 visual science","publisher":{"@context":"https://schema.org","@type":"Organization","name":null},"sourceOrganization":[{"@context":"https://schema.org","@type":"EducationalOrganization","name":null}],"thumbnailUrl":"https://attachments.academia-assets.com/74174947/thumbnails/1.jpg","url":"https://www.academia.edu/60958484/Evaluation_of_12_myopia_associated_genes_in_Chinese_patients_with_high_myopia"}</script><style type="text/css">@media(max-width: 567px){:root{--token-mode: Rebrand;--dropshadow: 0 2px 4px 0 #22223340;--primary-brand: #0645b1;--error-dark: #b60000;--success-dark: #05b01c;--inactive-fill: #ebebee;--hover: #0c3b8d;--pressed: #082f75;--button-primary-fill-inactive: #ebebee;--button-primary-fill: #0645b1;--button-primary-text: #ffffff;--button-primary-fill-hover: #0c3b8d;--button-primary-fill-press: #082f75;--button-primary-icon: #ffffff;--button-primary-fill-inverse: #ffffff;--button-primary-text-inverse: #082f75;--button-primary-icon-inverse: 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window.loswp.work = {"work":{"id":60958484,"created_at":"2021-11-03T16:16:27.641-07:00","from_world_paper_id":182912029,"updated_at":"2021-11-03T16:39:55.363-07:00","_data":{"abstract":"Two recent large-scale genome-wide association studies identified significant associations between myopia and SNPs near the PRSS56, BMP3, KCNQ5, LAMA2, TOX, TJP2, RDH5, ZIC2, RASGRF1, GJD2, RBFOX1, and SHISA6 genes. Our study is to examine whether rare variants in these genes contribute to high myopia. Whole exome sequencing was performed on samples of 298 probands with early-onset high myopia (spherical refraction in each meridian ≤-6.00 D in both eyes; age of onset \u0026lt;7 years) and 195 controls (different forms of retinal degeneration including Leber congenital amaurosis, cone-rod dystrophy, and familial exudative vitroretinopathy). Potential variations in these genes were selected for further validation and comparison to the controls. Moreover, Sanger sequencing was used to evaluate the coding regions and the upstream 800 base pairs of GJD2 in 395 additional subjects with late-onset moderate to high myopia (loMHM) (spherical refraction in each meridian ≤-4.00 D; age of onset ≥7 y...","publication_date":"2015,1,13","publication_name":"Investigative ophthalmology \u0026 visual science"},"document_type":"paper","pre_hit_view_count_baseline":null,"quality":"high","language":"en","title":"Evaluation of 12 myopia-associated genes in Chinese patients with high myopia","broadcastable":false,"draft":null,"has_indexable_attachment":true,"indexable":true}}["work"]; window.loswp.workCoauthors = [45139348]; window.loswp.locale = "en"; window.loswp.countryCode = "SG"; window.loswp.cwvAbTestBucket = ""; window.loswp.designVariant = "ds_vanilla"; window.loswp.fullPageMobileSutdModalVariant = "control"; window.loswp.useOptimizedScribd4genScript = false; window.loginModal = {}; window.loginModal.appleClientId = 'edu.academia.applesignon'; window.userInChina = "false";</script><script defer="" src="https://accounts.google.com/gsi/client"></script><div class="ds-loswp-container"><div class="ds-work-card--grid-container"><div class="ds-work-card--container js-loswp-work-card ds-work-card--no-bottom-spacing"><div class="ds-work-card--cover"><div class="ds-work-cover--wrapper"><div class="ds-work-cover--container"><button class="ds-work-cover--clickable js-swp-download-button" data-signup-modal="{"location":"swp-splash-paper-cover","attachmentId":74174947,"attachmentType":"pdf"}"><img alt="First page of “Evaluation of 12 myopia-associated genes in Chinese patients with high myopia”" class="ds-work-cover--cover-thumbnail" src="https://0.academia-photos.com/attachment_thumbnails/74174947/mini_magick20211103-5200-1ca8g22.png?1635981501" /><img alt="PDF Icon" class="ds-work-cover--file-icon" src="//a.academia-assets.com/images/single_work_splash/adobe_icon.svg" /><div class="ds-work-cover--hover-container"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">download</span><p>Download Free PDF</p></div><div class="ds-work-cover--ribbon-container">Download Free PDF</div><div class="ds-work-cover--ribbon-triangle"></div></button></div></div></div><div class="ds-work-card--work-information"><h1 class="ds-work-card--work-title">Evaluation of 12 myopia-associated genes in Chinese patients with high myopia</h1><div class="ds-work-card--work-authors ds-work-card--detail"><a class="ds-work-card--author js-wsj-grid-card-author ds2-5-body-md ds2-5-body-link" data-author-id="45139348" href="https://independent.academia.edu/QingjiongZhang"><img alt="Profile image of Qingjiong Zhang" class="ds-work-card--author-avatar" src="//a.academia-assets.com/images/s65_no_pic.png" />Qingjiong Zhang</a></div><div class="ds-work-card--detail"><p class="ds-work-card--detail ds2-5-body-sm">2015, Investigative ophthalmology & visual science</p><div class="ds-work-card--work-metadata"><div class="ds-work-card--work-metadata__stat"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">visibility</span><p class="ds2-5-body-sm" id="work-metadata-view-count">…</p></div><div class="ds-work-card--work-metadata__stat"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">description</span><p class="ds2-5-body-sm">8 pages</p></div><div class="ds-work-card--work-metadata__stat"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">link</span><p class="ds2-5-body-sm">1 file</p></div></div><script>(async () => { const workId = 60958484; 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if (!viewCountBody) { throw new Error('Failed to find work views element'); } viewCountBody.textContent = `${commaizedViewCount} views`; } catch (error) { // Remove the whole views element if there was some issue parsing. document.getElementById('work-metadata-view-count')?.parentNode?.remove(); throw new Error(`Failed to parse view count: ${viewCount}`, error); } }; // If the DOM is still loading, wait for it to be ready before updating the view count. if (document.readyState === "loading") { document.addEventListener('DOMContentLoaded', () => { updateViewCount(viewCount); }); // Otherwise, just update it immediately. } else { updateViewCount(viewCount); } })();</script></div><p class="ds-work-card--work-abstract ds-work-card--detail ds2-5-body-md">Two recent large-scale genome-wide association studies identified significant associations between myopia and SNPs near the PRSS56, BMP3, KCNQ5, LAMA2, TOX, TJP2, RDH5, ZIC2, RASGRF1, GJD2, RBFOX1, and SHISA6 genes. Our study is to examine whether rare variants in these genes contribute to high myopia. Whole exome sequencing was performed on samples of 298 probands with early-onset high myopia (spherical refraction in each meridian ≤-6.00 D in both eyes; age of onset &lt;7 years) and 195 controls (different forms of retinal degeneration including Leber congenital amaurosis, cone-rod dystrophy, and familial exudative vitroretinopathy). Potential variations in these genes were selected for further validation and comparison to the controls. Moreover, Sanger sequencing was used to evaluate the coding regions and the upstream 800 base pairs of GJD2 in 395 additional subjects with late-onset moderate to high myopia (loMHM) (spherical refraction in each meridian ≤-4.00 D; age of onset ≥7 y...</p><div class="ds-work-card--button-container"><button class="ds2-5-button js-swp-download-button" data-signup-modal="{"location":"continue-reading-button--work-card","attachmentId":74174947,"attachmentType":"pdf","workUrl":"https://www.academia.edu/60958484/Evaluation_of_12_myopia_associated_genes_in_Chinese_patients_with_high_myopia"}">See full PDF</button><button class="ds2-5-button ds2-5-button--secondary js-swp-download-button" data-signup-modal="{"location":"download-pdf-button--work-card","attachmentId":74174947,"attachmentType":"pdf","workUrl":"https://www.academia.edu/60958484/Evaluation_of_12_myopia_associated_genes_in_Chinese_patients_with_high_myopia"}"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">download</span>Download PDF</button></div><div class="ds-signup-banner-trigger-container"><div class="ds-signup-banner-trigger ds-signup-banner-trigger-control"></div></div><div class="ds-signup-banner ds-signup-banner-control"><div id="ds-signup-banner-close-button"><button class="ds2-5-button ds2-5-button--secondary ds2-5-button--inverse"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">close</span></button></div><div class="ds-signup-banner-ctas"><img src="//a.academia-assets.com/images/academia-logo-capital-white.svg" /><h4 class="ds2-5-heading-serif-sm">Sign up for access to the world's latest research</h4><button class="ds2-5-button ds2-5-button--inverse ds2-5-button--full-width js-swp-download-button" data-signup-modal="{"location":"signup-banner"}">Sign up for free<span class="material-symbols-outlined" style="font-size: 20px" translate="no">arrow_forward</span></button></div><div class="ds-signup-banner-divider"></div><div class="ds-signup-banner-reasons"><div class="ds-signup-banner-reasons-item"><span class="material-symbols-outlined" style="font-size: 24px" translate="no">check</span><span>Get notified about relevant papers</span></div><div class="ds-signup-banner-reasons-item"><span class="material-symbols-outlined" style="font-size: 24px" translate="no">check</span><span>Save papers to use in your research</span></div><div class="ds-signup-banner-reasons-item"><span class="material-symbols-outlined" style="font-size: 24px" translate="no">check</span><span>Join the discussion with peers</span></div><div class="ds-signup-banner-reasons-item"><span class="material-symbols-outlined" style="font-size: 24px" translate="no">check</span><span>Track your impact</span></div></div></div><script>(() => { // Set up signup banner show/hide behavior: // 1. 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data-author-id="37087965" href="https://independent.academia.edu/ElenaVallespin">Elena Vallespin</a></div><p class="ds-related-work--metadata ds2-5-body-xs">International Journal of Molecular Sciences</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study","attachmentId":85848703,"attachmentType":"pdf","work_url":"https://www.academia.edu/78969556/Next_Generation_Sequencing_Screening_of_43_Families_with_Non_Syndromic_Early_Onset_High_Myopia_A_Clinical_and_Genetic_Study","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline 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class="js-related-work-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="45139348" href="https://independent.academia.edu/QingjiongZhang">Qingjiong Zhang</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Investigative ophthalmology & visual science, 2015</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing","attachmentId":74174980,"attachmentType":"pdf","work_url":"https://www.academia.edu/60958530/Detection_of_mutations_in_LRPAP1_CTSH_LEPREL1_ZNF644_SLC39A5_and_SCO2_in_298_families_with_early_onset_high_myopia_by_exome_sequencing","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span 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data-collection-position="12" data-entity-id="81497082" data-sort-order="default"><a class="ds-related-work--title js-related-work-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/81497082/Involvement_of_Multiple_Molecular_Pathways_in_the_Genetics_of_Ocular_Refraction_and_Myopia">Involvement of Multiple Molecular Pathways in the Genetics of Ocular Refraction and Myopia</a><div class="ds-related-work--metadata"><a class="js-related-work-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="58369255" href="https://independent.academia.edu/RobertWojciechowski1">Robert Wojciechowski</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Retina, 2017</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Involvement of Multiple Molecular Pathways in the Genetics of Ocular Refraction and 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Science, 2014</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Genome-Wide Association Studies of Refractive Error and Myopia, Lessons Learned, and Implications for the Future","attachmentId":87520346,"attachmentType":"pdf","work_url":"https://www.academia.edu/81497058/Genome_Wide_Association_Studies_of_Refractive_Error_and_Myopia_Lessons_Learned_and_Implications_for_the_Future","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-related-work-grid-card-view-pdf" href="https://www.academia.edu/81497058/Genome_Wide_Association_Studies_of_Refractive_Error_and_Myopia_Lessons_Learned_and_Implications_for_the_Future"><span 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ds2-5-body-xs">PLoS Genetics, 2008</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Identification and Replication of Three Novel Myopia Common Susceptibility Gene Loci on Chromosome 3q26 using Linkage and Linkage Disequilibrium Mapping","attachmentId":40014317,"attachmentType":"pdf","work_url":"https://www.academia.edu/18362529/Identification_and_Replication_of_Three_Novel_Myopia_Common_Susceptibility_Gene_Loci_on_Chromosome_3q26_using_Linkage_and_Linkage_Disequilibrium_Mapping","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-related-work-grid-card-view-pdf" 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