Combination of KIR and HLA gene variants augments the risk of developing birdshot chorioretinopathy in HLA-A*29-positive individuals

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Although HLA-A29 occurs frequently in all populations, BCR affects only a small percentage of HLA-A29-po …"><meta name="keywords" content="pmid:18340360, doi:10.1038/gene.2008.13, Comparative Study, Research Support, Non-U.S. Gov't, R D Levinson, Z Du, R Rajalingam, Autoimmunity / genetics*, Autoimmunity / immunology, Base Sequence, Chorioretinitis / genetics*, Chorioretinitis / immunology, France, Gene Expression Regulation / genetics, Gene Expression Regulation / immunology*, Genetic Predisposition to Disease / genetics*, Genotype, HLA-A Antigens / genetics*, HLA-A Antigens / immunology, Humans, Killer Cells, Natural / immunology*, Killer Cells, Natural / metabolism, Molecular Sequence Data, Receptors, KIR / genetics*, Receptors, KIR / immunology, Receptors, KIR3DL1 / genetics, Sequence Analysis, DNA, White People / genetics, PubMed Abstract, NIH, NLM, NCBI, National Institutes of Health, National Center for Biotechnology Information, National Library of Medicine, MEDLINE"><meta name="robots" content="index,nofollow,noarchive"><meta property="og:title" content="Combination of KIR and HLA gene variants augments the risk of developing birdshot chorioretinopathy in HLA-A*29-positive individuals - PubMed"><meta property="og:url" content="https://pubmed.ncbi.nlm.nih.gov/18340360/"><meta property="og:description" content="Birdshot chorioretinopathy (BCR), a chronic ocular inflammatory disease with characteristic choroidal lymphocytic infiltrates, has been strongly associated with human leukocyte antigen (HLA)-A29. Although HLA-A29 occurs frequently in all populations, BCR affects only a small percentage of HLA-A29-po …"><meta property="og:image" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg"><meta property="og:image:secure_url" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg"><meta property="og:type" content="website"><meta property="og:site_name" content="PubMed"><meta name="twitter:domain" content="pubmed.ncbi.nlm.nih.gov"><meta name="twitter:card" content="summary_large_image"><meta name="twitter:title" content="Combination of KIR and HLA gene variants augments the risk of developing birdshot chorioretinopathy in HLA-A*29-positive individuals - PubMed"><meta name="twitter:url" content="https://pubmed.ncbi.nlm.nih.gov/18340360/"><meta name="twitter:description" content="Birdshot chorioretinopathy (BCR), a chronic ocular inflammatory disease with characteristic choroidal lymphocytic infiltrates, has been strongly associated with human leukocyte antigen (HLA)-A29. Although HLA-A29 occurs frequently in all populations, BCR affects only a small percentage of HLA-A29-po …"><meta name="twitter:image" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg">  <link rel="search" type="application/opensearchdescription+xml" href="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/opensearch.xml" title="PubMed search">  <noscript> <link rel="stylesheet" type="text/css" href="https://cdn.ncbi.nlm.nih.gov/pubmed/0d576970-ea4f-4f8d-9bab-bf51569c42d2/core/no-script.css"> </noscript> <meta name="citation_title" content="Combination of KIR and HLA gene variants augments the risk of developing birdshot chorioretinopathy in HLA-A*29-positive individuals"> <meta name="citation_authors" content="Levinson RD;Du Z;Luo L;Monnet D;Tabary T;Brezin AP;Zhao L;Gjertson DW;Holland GN;Reed EF;Cohen JH;Rajalingam R;"> <meta name="citation_date" content="2008 Apr"> <meta name="citation_publisher" content="Genes Immun"> <meta name="citation_journal_title" content="Genes and immunity"> <meta name="citation_pmid" content="18340360"> <meta name="citation_abstract_html_url" content="https://pubmed.ncbi.nlm.nih.gov/18340360/"> <meta name="citation_volume" content="9"> <meta name="citation_issue" content="3"> <meta name="citation_doi" content="10.1038/gene.2008.13"> <meta name="citation_issn" content="1476-5470"> <link rel="canonical" href="https://pubmed.ncbi.nlm.nih.gov/18340360/" /> </head> <body > <noscript> <div class="no-script-banner" id="no-script-banner"> <div class="warning-message"> <div class="warning-message-text"> This site needs JavaScript to work properly. 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new collection</label> </li> <li> <input type="radio" id="collections-action-panel-existing" class="collections-existing" name="collections" value="existing" checked="true" data-ga-category="save_share" data-ga-action="collections" data-ga-label="collections_radio_existing"> <label for="collections-action-panel-existing">Add to an existing collection</label> </li> </ul> </div> <div class="controls-wrapper"> <div class="action-panel-control-wrap new-collections-controls"> <label for="collections-action-panel-add-to-new" class="action-panel-label required-field-asterisk"> Name your collection: </label> <input type="text" name="add-to-new-collection" id="collections-action-panel-add-to-new" class="collections-action-add-to-new" pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/" maxlength="100" data-ga-category="save_share" data-ga-action="create_collection" data-ga-label="non_favorties_collection"> <div class="collections-new-name-too-long usa-input-error-message selection-validation-message"> Name must be less than 100 characters </div> </div> <div class="action-panel-control-wrap existing-collections-controls"> <label for="collections-action-panel-add-to-existing" class="action-panel-label"> Choose a collection: </label> <select id="collections-action-panel-add-to-existing" class="action-panel-selector collections-action-add-to-existing" data-ga-category="save_share" data-ga-action="select_collection" data-ga-label="($('#collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'"> </select> <div class="collections-retry-load-on-error usa-input-error-message selection-validation-message"> Unable to load your collection due to an error<br> <a href="#">Please try again</a> </div> </div> </div> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Adding..." data-pinger-ignore data-ga-category="save_share" data-ga-action="collections" data-ga-label="add"> Add </button> <button class="action-panel-cancel" aria-label="Close 'Add to Collections' panel" ref="linksrc=close_collections_panel" aria-controls="collections-action-panel" aria-expanded="false" data-ga-category="save_share" data-ga-action="collections" data-ga-label="cancel"> Cancel </button> </div> </form> </div> </div> <div id="bibliography-action-panel" class="bibliography-action-panel action-panel in-progress-dots-panel" aria-hidden="true" data-bibliography-open-panel-enabled="false" data-bibliography-open-panel-url-hash="#open-bibliography-panel"> <div class="inner-wrap"> <h3 class="action-panel-heading"> Add to My Bibliography </h3> <form id="bibliography-action-panel-form" class="bibliography-action-panel-form action-panel-content action-form action-panel-smaller-selectors" data-add-to-bibliography-max-amount="100" data-add-to-bibliography-batch-size="10" data-bibliography-delegates-url="/list-bibliography-delegates/" data-add-to-bibliography-url="/add-to-bibliography/" data-get-article-ids-by-search-url="/get-article-ids-by-search/" data-mybib-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/mybibliography/"> <input type="hidden" name="csrfmiddlewaretoken" value="5IVdSbvMtO960oQfAPq8UqsVtNocVtK5sdy6fCE3aTMckYq65CwfX3qUVjYhcdbC"> <div class="action-panel-control-wrap bibliographies-controls"> <div class="choice-group"> <ul class="bibliographies-action-add radio-group-items"> <li> <input name="bibliography" id="my-bibliography" class="my-bibliography" type="radio" checked/> <label for="my-bibliography">My Bibliography</label> </li> </ul> </div> </div> <div class="bibliographies-retry-load-on-error usa-input-error-message selection-validation-message"> Unable to load your delegates due to an error<br> <a href="#">Please try again</a> </div> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Adding..." data-pinger-ignore> Add </button> <button class="action-panel-cancel" aria-label="Close 'Add to bibliography' panel" ref="linksrc=close_bibliography_panel" aria-controls="bibliography-action-panel" aria-expanded="false" data-ga-category="save_share" data-ga-action="mybib" data-ga-label="cancel"> Cancel </button> </div> </form> </div> </div> <div id="saved-search-action-panel" class="saved-search-action-panel action-panel " aria-hidden="true" data-saved-search-open-panel-enabled="false" data-saved-search-open-panel-url-hash="#open-saved-search-panel"> <div class="inner-wrap"> <h2 class="action-panel-heading"> Your saved search </h2> <form id="saved-search-action-panel-form" class="saved-search-action-panel-form action-panel-content action-form" data-create-saved-search-url="/create-saved-search/" data-try-search-terms-url="/try-search-term/" data-saved-search-root-url="https://www.ncbi.nlm.nih.gov/myncbi/searches/"> <input type="hidden" name="csrfmiddlewaretoken" value="5IVdSbvMtO960oQfAPq8UqsVtNocVtK5sdy6fCE3aTMckYq65CwfX3qUVjYhcdbC"> <div class="action-panel-control-wrap"> <label for="saved-search-name" class="action-panel-label saved-search-name-label required-field-asterisk"> Name of saved search: </label> <input maxlength="200" type="text" name="saved-search-name" id="saved-search-name" class="saved-search-name" value="" required pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"> </div> <div class="action-panel-control-wrap"> <label for="saved-search-term" class="action-panel-label required-field-asterisk"> Search terms: </label> <textarea name="saved-search-term" id="saved-search-term" class="saved-search-term" required></textarea> </div> <div class="test-search-term-wrap"> <a href="#" class="try-search-term">Test search terms</a> </div> <div class="choice-group action-panel-extra-margin-top"> <span class="action-panel-label" id="fieldset-label"> Would you like email updates of new search results? </span> <fieldset id="saved-search-alert" aria-describedby="fieldset-label"> <legend class="usa-sr-only">Saved Search Alert Radio Buttons</legend> <ul class="radio-group-items"> <li> <input type="radio" id="saved-search-alert-yes" class="saved-search-alert-yes" name="saved-search-alert" value="yes" checked> <label for="saved-search-alert-yes" class="action-panel-label">Yes</label> </li> <li> <input aria-label="No radio input" type="radio" id="saved-search-alert-no" class="saved-search-alert-no" name="saved-search-alert" value="no"> <label for="saved-search-alert-no" class="action-panel-label">No</label> </li> </ul> </fieldset> </div> <div class="alert-schedule-wrap"> <div class="action-panel-control-wrap"> <label class="action-panel-label"> Email: </label> <span aria-label="Email address" id="saved-search-email" class="action-panel-label"><span class="action-panel-label-bold"></span> (<a class="myncbi-account-settings" href="https://www.ncbi.nlm.nih.gov/account/settings/">change</a>)</span> </div> <div class="action-panel-control-wrap action-panel-extra-margin-top"> <label for="saved-search-frequency" class="action-panel-label"> Frequency: </label> <select id="saved-search-frequency" class="no-border-panel-selector saved-search-frequency"> <option value="monthly">Monthly</option> <option value="weekly">Weekly</option> <option value="daily">Daily</option> </select> </div> <div class="action-panel-control-wrap saved-search-monthly-additional"> <label for="saved-search-monthly-on-day" class="action-panel-label"> Which day? </label> <select id="saved-search-monthly-on-day" class="no-border-panel-selector"> <option value="Sunday">The first Sunday</option> <option value="Monday">The first Monday</option> <option value="Tuesday">The first Tuesday</option> <option value="Wednesday">The first Wednesday</option> <option value="Thursday">The first Thursday</option> <option value="Friday">The first Friday</option> <option value="Saturday">The first Saturday</option> <option value="day">The first day</option> <option value="weekday">The first weekday</option> </select> </div> <div class="action-panel-control-wrap saved-search-weekly-additional"> <label for="saved-search-weekly-on-day" class="action-panel-label"> Which day? </label> <select id="saved-search-weekly-on-day" class="no-border-panel-selector saved-search-weekly-on-day"> <option value="Sunday">Sunday</option> <option value="Monday">Monday</option> <option value="Tuesday">Tuesday</option> <option value="Wednesday">Wednesday</option> <option value="Thursday">Thursday</option> <option value="Friday">Friday</option> <option value="Saturday">Saturday</option> </select> </div> <div class="action-panel-control-wrap"> <label for="saved-search-report" class="action-panel-label"> Report format: </label> <select id="saved-search-report" class="no-border-panel-selector saved-search-report"> <option value="DocSum">Summary</option> <option value="DocSumText">Summary (text)</option> <option value="Abstract">Abstract</option> <option value="AbstractText">Abstract (text)</option> <option value="MEDLINE">PubMed</option> </select> </div> <div class="action-panel-control-wrap"> <label for="saved-search-amount" class="action-panel-label"> Send at most: </label> <select id="saved-search-amount" class="no-border-panel-selector saved-search-amount"> <option value="1">1 item</option> <option value="5" selected>5 items</option> <option value="10">10 items</option> <option value="20">20 items</option> <option value="50">50 items</option> <option value="100">100 items</option> <option value="200">200 items</option> </select> </div> <div> <input type="checkbox" id="saved-search-send-if-no-result" class="saved-search-send-if-no-result" name="saved-search-send-if-no-result"> <label for="saved-search-send-if-no-result" class="action-panel-label smaller-checkbox"> Send even when there aren't any new results </label> </div> <div class="action-panel-control-wrap option-text-in-email-wrap"> <label for="saved-search-email-text" class="action-panel-label"> Optional text in email: </label> <textarea name="saved-search-email-text" id="saved-search-email-text" class="saved-search-email-text"></textarea> </div> </div> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Saving..." data-ga-category="save_share" data-ga-action="alert" data-ga-label="save"> Save </button> <button class="action-panel-cancel" aria-label="Close 'Your saved search' panel" ref="linksrc=close_saved_search_panel" aria-controls="saved-search-action-panel" aria-expanded="false" data-ga-category="save_share" data-ga-action="alert" data-ga-label="cancel"> Cancel </button> </div> </form> </div> </div> <div id="citation-manager-action-panel" class="citation-manager-action-panel action-panel" aria-hidden="true"> <div class="inner-wrap"> <h2 class="action-panel-heading"> Create a file for external citation management software </h2> <form id="citation-manager-action-panel-form" class="action-panel-content action-form" action="/results-export-ids/" data-by-search-action="/results-export-search-data/" data-by-ids-action="/results-export-ids/" method="post" data-by-search-method="post" data-by-ids-method="post"> <input type="hidden" name="csrfmiddlewaretoken" value="5IVdSbvMtO960oQfAPq8UqsVtNocVtK5sdy6fCE3aTMckYq65CwfX3qUVjYhcdbC"> <input name="results-format" type="hidden" value="pubmed"/> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Sending..." data-ga-category="save_share" data-ga-action="citation_manager" data-ga-label="save"> Create file </button> <button class="action-panel-cancel" aria-label="Close 'Send citations to citation manager' panel" ref="linksrc=close_citation_manager_panel" aria-controls="citation-manager-action-panel" aria-expanded="false" data-ga-category="save_share" data-ga-action="citation_manager" data-ga-label="cancel"> Cancel </button> </div> </form> </div> </div> <div id="rss-action-panel" class="rss-action-panel action-panel " aria-hidden="true"> <div class="inner-wrap"> <h2 class="action-panel-heading"> Your RSS Feed </h2> <form id="rss-action-panel-form" class="rss-action-panel-form action-panel-content action-form" data-create-rss-feed-url="/create-rss-feed-url/" data-search-form-term-value=""> <input type="hidden" name="csrfmiddlewaretoken" value="5IVdSbvMtO960oQfAPq8UqsVtNocVtK5sdy6fCE3aTMckYq65CwfX3qUVjYhcdbC"> <div class="action-panel-control-wrap"> <label for="rss-name" class="action-panel-label required-field-asterisk"> Name of RSS Feed: </label> <input maxlength="200" placeholder="Name" type="text" name="rss-name" id="rss-name" class="rss-name" value='' required pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"> </div> <div class="rss-limit-wrap"> <div class="action-panel-control-wrap action-panel-extra-margin-top"> <label for="rss-limit" class="action-panel-label"> Number of items displayed: </label> <select id="rss-limit" class="no-border-panel-selector rss-limit"> <option value="5">5</option> <option value="10">10</option> <option value="15" selected="selected">15</option> <option value="20">20</option> <option value="50">50</option> <option value="100">100</option> </select> </div> </div> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Creating..." data-ga-category="save_share" data-ga-action="alert" data-ga-label="save"> Create RSS </button> 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>Comparative Study</div> <div class="article-source"> <div class="journal-actions dropdown-block"><button id="full-view-journal-trigger" class="journal-actions-trigger trigger" ref="linksrc=journal_actions_btn" title="Genes and immunity" tabindex="0" aria-controls="full-view-journal" aria-expanded="false" aria-label="Toggle dropdown menu for journal Genes and immunity" data-pinger-ignore> Genes Immun </button><div id="full-view-journal" class="journal-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for journal Genes and immunity"><div class="title">Actions</div><div class="content"><ul class="journal-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Genes+Immun%22%5Bjour%5D&sort=date&sort_order=desc" data-href="/?term=%22Genes+Immun%22%5Bjour%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_journal_name_link&journal_abbrev=Genes Immun" data-ga-category="search" data-ga-action="journal_link" data-ga-label="Genes Immun"> Search in PubMed </a></li><li><a class="search-in-nlm-catalog-link dropdown-block-link" ref ="linksrc=search_in_nlm_catalog_link" href="https://www.ncbi.nlm.nih.gov/nlmcatalog?term=%22Genes+Immun%22%5BTitle+Abbreviation%5D" data-ga-category="search_catalog" data-ga-action="journal_link" data-ga-label="Genes Immun"> Search in NLM Catalog </a></li><li><a class="add-to-search-link dropdown-block-link" ref ="linksrc=add_to_search_link" role="button" data-search-term='"Genes Immun"[jour]' data-ga-category="search" data-ga-action="add_to_search" data-ga-label='"Genes Immun"[jour]' href="#"> Add to Search </a></li></ul></div></div></div><span class="period">. </span><span class="cit">2008 Apr;9(3):249-58.</span> </div> <span class="citation-doi"> doi: 10.1038/gene.2008.13. </span> <span class="secondary-date"> Epub 2008 Mar 13. </span> </div> <h1 class="heading-title"> Combination of KIR and HLA gene variants augments the risk of developing birdshot chorioretinopathy in HLA-A*29-positive individuals </h1> <div class="inline-authors"> <div class="authors"> <div class="authors-list"> <span class="authors-list-item "><a class="full-name" href="/?term=Levinson+RD&cauthor_id=18340360" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="R D Levinson">R D Levinson</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Ocular Inflammatory Disease Center, Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, University of California at Los Angeles, CA 90095-1652, USA." href="#full-view-affiliation-1" ref="linksrc=author_aff"> 1 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Du+Z&cauthor_id=18340360" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Z Du">Z Du</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Luo+L&cauthor_id=18340360" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="L Luo">L Luo</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Monnet+D&cauthor_id=18340360" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="D Monnet">D Monnet</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Tabary+T&cauthor_id=18340360" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="T Tabary">T Tabary</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Brezin+AP&cauthor_id=18340360" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="A P Brezin">A P Brezin</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Zhao+L&cauthor_id=18340360" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="L Zhao">L Zhao</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Gjertson+DW&cauthor_id=18340360" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="D W Gjertson">D W Gjertson</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Holland+GN&cauthor_id=18340360" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="G N Holland">G N Holland</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Reed+EF&cauthor_id=18340360" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="E F Reed">E F Reed</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Cohen+JH&cauthor_id=18340360" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="J H M Cohen">J H M Cohen</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Rajalingam+R&cauthor_id=18340360" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="R Rajalingam">R Rajalingam</a></span> </div> </div> </div> <div class="short-article-details"> Affiliations <button class="more-details" id="toggle-authors" data-alt-text="Collapse" aria-controls="expanded-authors" aria-expanded="false" data-pinger-ignore data-fetch-url="/18340360/long-authors/" data-id-prefix=""> <span class="title"> Expand </span> </button> </div> <div class="extended-article-details" id="expanded-authors" aria-hidden="true"> <div class="expanded-authors" id="full-view-expanded-authors"> <div class="affiliations"> <h3 class="title"> Affiliation </h3> <ul class="item-list"> <li data-affiliation-id="full-view-affiliation-1" id="full-view-affiliation-1" ><sup class="key">1</sup> Ocular Inflammatory Disease Center, Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, University of California at Los Angeles, CA 90095-1652, USA.</li> </ul> </div> </div> </div> <ul class="identifiers" id="full-view-identifiers"> <li> <span class="identifier pubmed"> <span class="id-label"> PMID: </span> <strong class="current-id" title="PubMed ID">18340360</strong> </span> </li> <li> <span class="identifier doi"> <span class="id-label"> DOI: </span> <a class="id-link" target="_blank" rel="noopener" ref="linksrc=article_id_link&article_id=10.1038/gene.2008.13&id_type=DOI" href="https://doi.org/10.1038/gene.2008.13" data-ga-category="full_text" data-ga-action="DOI" > 10.1038/gene.2008.13 </a> </span> </li> </ul> <div class="in-clipboard-label " hidden> Item in Clipboard </div> </div> <div class="short-view" id="short-view-heading"> <div class="publication-type" >Comparative Study</div> <h1 class="heading-title"> Combination of KIR and HLA gene variants augments the risk of developing birdshot chorioretinopathy in HLA-A*29-positive individuals </h1> <div class="short-citation"> <span class="authors-list"> <span class="authors-list-item "><span class="full-name">R D Levinson</span><span class="citation-separator"> et al.</span></span> </span> <span class="citation-journal"> Genes Immun<span class="citation-separator">.</span> </span> <span class="date"> <span class="citation-year">2008 Apr</span><span class="citation-separator">.</span> </span> </div> <div class="more-article-details-section with-display-settings"> <button class="more-article-details" id="toggle-article-details" data-alt-text="Hide details" ref="linksrc=toggle_article_details" aria-controls="full-article-details" 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class="article-citation"> <div class="article-source"> <div class="journal-actions dropdown-block"><button id="short-view-journal-trigger" class="journal-actions-trigger trigger" ref="linksrc=journal_actions_btn" title="Genes and immunity" tabindex="0" aria-controls="short-view-journal" aria-expanded="false" aria-label="Toggle dropdown menu for journal Genes and immunity" data-pinger-ignore> Genes Immun </button><div id="short-view-journal" class="journal-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for journal Genes and immunity"><div class="title">Actions</div><div class="content"><ul class="journal-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Genes+Immun%22%5Bjour%5D&sort=date&sort_order=desc" data-href="/?term=%22Genes+Immun%22%5Bjour%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_journal_name_link&journal_abbrev=Genes Immun" data-ga-category="search" data-ga-action="journal_link" data-ga-label="Genes Immun"> Search in PubMed </a></li><li><a class="search-in-nlm-catalog-link dropdown-block-link" ref ="linksrc=search_in_nlm_catalog_link" href="https://www.ncbi.nlm.nih.gov/nlmcatalog?term=%22Genes+Immun%22%5BTitle+Abbreviation%5D" data-ga-category="search_catalog" data-ga-action="journal_link" data-ga-label="Genes Immun"> Search in NLM Catalog </a></li><li><a class="add-to-search-link dropdown-block-link" ref ="linksrc=add_to_search_link" role="button" data-search-term='"Genes Immun"[jour]' data-ga-category="search" data-ga-action="add_to_search" data-ga-label='"Genes Immun"[jour]' href="#"> Add to Search </a></li></ul></div></div></div><span class="period">. </span><span class="cit">2008 Apr;9(3):249-58.</span> </div> <span class="citation-doi"> doi: 10.1038/gene.2008.13. </span> <span class="secondary-date"> Epub 2008 Mar 13. </span> </div> <div class="expanded-authors" id="short-view-expanded-authors"> <div class="authors"> <h3 class="title"> Authors </h3> <div class="authors-list"> <span class="authors-list-item "><a class="full-name" href="/?term=Levinson+RD&cauthor_id=18340360" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="R D Levinson">R D Levinson</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Ocular Inflammatory Disease Center, Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, University of California at Los Angeles, CA 90095-1652, USA." href="#short-view-affiliation-1" ref="linksrc=author_aff"> 1 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Du+Z&cauthor_id=18340360" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Z Du">Z Du</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Luo+L&cauthor_id=18340360" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="L Luo">L Luo</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Monnet+D&cauthor_id=18340360" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="D Monnet">D Monnet</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Tabary+T&cauthor_id=18340360" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="T Tabary">T Tabary</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Brezin+AP&cauthor_id=18340360" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="A P Brezin">A P Brezin</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Zhao+L&cauthor_id=18340360" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="L Zhao">L Zhao</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Gjertson+DW&cauthor_id=18340360" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="D W Gjertson">D W Gjertson</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Holland+GN&cauthor_id=18340360" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="G N Holland">G N Holland</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Reed+EF&cauthor_id=18340360" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="E F Reed">E F Reed</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Cohen+JH&cauthor_id=18340360" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="J H M Cohen">J H M Cohen</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Rajalingam+R&cauthor_id=18340360" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="R Rajalingam">R Rajalingam</a></span> </div> </div> <div class="affiliations"> <h3 class="title"> Affiliation </h3> <ul class="item-list"> <li data-affiliation-id="short-view-affiliation-1" id="short-view-affiliation-1" ><sup class="key">1</sup> Ocular Inflammatory Disease Center, Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, University of California at Los Angeles, CA 90095-1652, USA.</li> </ul> </div> </div> <ul class="identifiers" id="short-view-identifiers"> <li> <span class="identifier pubmed"> <span class="id-label"> PMID: </span> <strong class="current-id" title="PubMed ID">18340360</strong> </span> </li> <li> <span class="identifier doi"> <span class="id-label"> DOI: </span> <a class="id-link" target="_blank" rel="noopener" ref="linksrc=article_id_link&article_id=10.1038/gene.2008.13&id_type=DOI" href="https://doi.org/10.1038/gene.2008.13" data-ga-category="full_text" data-ga-action="DOI" > 10.1038/gene.2008.13 </a> </span> </li> </ul> <div class="in-clipboard-label " hidden> Item in Clipboard </div> </div> </div> </header> <div class="actions-buttons inline"><div class="inner-wrap"><button class="full-text-links-button full-text-links-dialog-trigger" title="Open dialog with full text links" ref="linksrc=full_text_links"> Full text links </button><button class="citation-button citation-dialog-trigger" aria-label="Open dialog with citation text in different styles" data-ga-category="save_share" data-ga-action="cite" data-ga-label="open" data-all-citations-url="/18340360/citations/" data-citation-style="nlm" data-pubmed-format-link="/18340360/export/"><span class="button-label">Cite</span></button><button class="more-actions-button more-actions-dialog-trigger" title="Open dialog with more actions to take" ref="linksrc=more_actions_btn"></button><div class="display-options" data-format-key="format" data-default-format-value="abstract" data-current-format-value="abstract" role="region"><button class="trigger usa-button" title="Change format" data-ga-category="display_options" data-ga-action="display_options_dialog"><span class="button-label">Display options</span></button><div class="dropdown" hidden><div class="title"> Display options </div><div class="content"><div class="format-container"><span class="option-label"> Format </span><select name="format" data-initial-value="abstract" aria-label="Display format" id="inline-actions-display-format"><option value="abstract">Abstract</option><option value="pubmed">PubMed</option><option value="pmid">PMID</option></select></div></div></div></div></div></div> <div class="abstract" id="abstract"> <h2 class="title"> Abstract </h2> <div class="abstract-content selected" id="eng-abstract"> <p> Birdshot chorioretinopathy (BCR), a chronic ocular inflammatory disease with characteristic choroidal lymphocytic infiltrates, has been strongly associated with human leukocyte antigen (HLA)-A29. Although HLA-A29 occurs frequently in all populations, BCR affects only a small percentage of HLA-A29-positive Caucasians, indicating additional susceptibility factors for BCR. Discovery of HLA class I-specific killer cell immunoglobulin-like receptors (KIR) led to a series of epidemiological studies implicating KIR-HLA gene combinations in disease. Here, we characterized KIR-HLA pairs in BCR patients and controls carrying HLA-A*29 as well as controls lacking HLA-A*29. KIR-HLA pairs implicated for weak inhibition (KIR2DL2/3+HLA-C1 and KIR3DL1+HLA-Bw4(T80)) in combination with activating KIR genes associated with autoimmunity (KIR2DS2, 2DS3 and 2DS4) augment the risk of developing BCR in HLA-A*29-positive individuals. The reciprocal association of strong inhibitory pairs (KIR3DL1+HLA-Bw4(I80) and KIR2DL1+HLA-C2) in combination with those implicated in protection from infection (KIR3DS1+HLA-Bw4(I80) and KIR2DS1+HLA-C2) was observed in HLA-A*29-negative controls. These results suggest that a profound effect of KIR2DS2/S3/S4 in the absence of strong inhibition may enhance the activation of natural killer cells and T-cell subsets against intraocular self-antigens, thereby contributing to pathogenesis of BCR. </p> </div> </div> <p class="disclaimer" id="disclaimer"> <a href="/disclaimer/" target="_blank" ga_category="literature_resources" ga_action="disclaimer_link" ga_label="under_abstract">PubMed Disclaimer</a> </p> <div class="similar-articles" id="similar"> <h2 class="title"> Similar articles </h2> <ul class="articles-list" id="similar-articles-list"> <li class="full-docsum"> <div class="docsum-content" style="display:inline;"> <a class="docsum-title" href="/36599262/" ref="article_id=36599262&linksrc=similar_articles_link&ordinalpos=1" data-ga-category="similar_article" data-ga-action="36599262" data-ga-label=""> The impact of killer cell immunoglobulin-like receptor (KIR) genes and human leukocyte antigen (HLA) class I ligands on predisposition or protection against prostate cancer. </a> <div class="docsum-citation full-citation"> <span class="docsum-authors full-authors">Roshan Zamir M, Ariafar A, Ghaderi A, Amirzargar A.</span> <span class="docsum-authors short-authors">Roshan Zamir M, et al.</span> <span class="docsum-journal-citation full-journal-citation">Immunobiology. 2023 Mar;228(2):152319. doi: 10.1016/j.imbio.2022.152319. 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class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Receptors%2C+KIR%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc" data-href="/?term=%22Receptors%2C+KIR%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Receptors, KIR/genetics"[MAJR]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Receptors, KIR / genetics*"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Receptors%2C+KIR" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Receptors, KIR / genetics*"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Receptors, KIR/genetics"[MAJR]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Receptors, 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Combination of KIR and HLA gene variants augments the risk of developing birdshot chorioretinopathy in HLA-A*29-positive individuals - PubMed