{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:01:32Z","timestamp":1753869692066,"version":"3.41.2"},"reference-count":39,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2020,9,1]],"date-time":"2020-09-01T00:00:00Z","timestamp":1598918400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Several studies have suggested that polymorphisms within genes encoding T\u2010lymphocyte immune regulating molecules: <jats:italic>CD28<\/jats:italic>, <jats:italic>CTLA<\/jats:italic>\u2010<jats:italic>4<\/jats:italic>, and <jats:italic>ICOS<\/jats:italic>, may alter the signaling process and subsequently could be involved in susceptibility to a broad spectrum of autoimmune diseases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This study aimed to replicate associations between common polymorphisms in the 2q33.2 cluster and susceptibility to pemphigus foliaceus (PF) in the Tunisian population. We investigated seven polymorphisms: rs3116496 and rs1879877 (<jats:italic>CD28<\/jats:italic>), rs231775, rs3087243, and (AT)<jats:sub>n<\/jats:sub> repeat (<jats:italic>CTLA4<\/jats:italic>); rs11889031 and rs10932029 (<jats:italic>ICOS<\/jats:italic>) in a case\u2013control study which enrolled 106 Tunisian PF patients and 205 matched healthy controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We confirmed the associations with <jats:italic>CTLA4<\/jats:italic>((AT)<jats:sub>13<\/jats:sub>, <jats:italic>p<\/jats:italic>\u00a0=\u00a00.00137, OR\u00a0=\u00a03.96 and (AT)<jats:sub>20<\/jats:sub>, <jats:italic>p<\/jats:italic>\u00a0=\u00a00.008, OR\u00a0=\u00a05.22; respectively) and <jats:italic>ICOS<\/jats:italic> genes (rs10932029&gt;CT, <jats:italic>p<\/jats:italic>\u00a0=\u00a00.034, OR\u00a0=\u00a02.12 and rs10932029&gt;TT, <jats:italic>p<\/jats:italic>\u00a0=\u00a00.04 and OR\u00a0=\u00a00.41).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our results indicate that susceptibility to PF is located in the proximal and the distal 3\u2032 flanking region of the <jats:italic>CTLA4<\/jats:italic>\/<jats:italic>ICOS<\/jats:italic> promoter. These findings may open avenues to the treatment of patients with biological drugs targeting CTLA4\/ICOS molecules, in a personalized manner to achieve more effective treatment.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1476","type":"journal-article","created":{"date-parts":[[2020,9,2]],"date-time":"2020-09-02T03:49:30Z","timestamp":1599018570000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["<i>Chromosome 2q33<\/i>genetic polymorphisms in Tunisian endemic pemphigus foliaceus"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0208-145X","authenticated-orcid":false,"given":"Olfa","family":"Abida","sequence":"first","affiliation":[{"name":"\u201cAutoimmunity, Cancer And Immunogenetics\u201d research laboratory (LR18SP12) Immunology Department Habib Bourguiba Hospital University of Sfax Sfax 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