{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T08:30:06Z","timestamp":1770280206460,"version":"3.49.0"},"reference-count":21,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2011,10,28]],"date-time":"2011-10-28T00:00:00Z","timestamp":1319760000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arthritis &amp; Rheumatism"],"published-print":{"date-parts":[[2011,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Using a genome\u2010wide association scan and DNA pooling, we previously identified 5 novel genetic susceptibility loci for Beh\u00e7et's disease. We undertook this study to establish the genetic effect within the <jats:italic>UBAC2<\/jats:italic> gene, in the course of which we replicated this genetic association and identified a functional variant within this locus.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We studied a total of 676 Beh\u00e7et's disease patients and 1,096 controls. The discovery set included 156 patients and 167 controls from Turkey, and the replication sets included 376 patients and 369 controls from Turkey and 144 patients and 560 controls from Italy. Genotyping of 14 single\u2010nucleotide polymorphisms (SNPs) within and around <jats:italic>UBAC2<\/jats:italic> was performed using TaqMan SNP genotyping assays.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The genetic association between Beh\u00e7et's disease and <jats:italic>UBAC2<\/jats:italic> was established, replicated, and confirmed (meta\u2010analysis odds ratio 1.84, <jats:italic>P<\/jats:italic> = 1.69 \u00d7 10<jats:sup>\u22127<\/jats:sup>). Haplotype analysis identified both a disease\u2010risk haplotype and a protective haplotype (<jats:italic>P<\/jats:italic> = 0.00014 and <jats:italic>P<\/jats:italic> = 0.0075, respectively). Using conditional haplotype analysis, we identified the SNP rs7999348 (A\/G) within <jats:italic>UBAC2<\/jats:italic> as the most likely SNP with a genetic effect independent of the haplotypic effect formed by the remaining associated SNPs in this locus. Indeed, we demonstrated that rs7999348 tags a functional variant associated with increased messenger RNA expression of a <jats:italic>UBAC2<\/jats:italic> transcript variant in peripheral blood mononuclear cells of individuals homozygous for the Beh\u00e7et's disease\u2013associated \u201cG\u201d allele. Further, our data suggested the possibility of multiple genetic effects that increase susceptibility to Beh\u00e7et's disease in the <jats:italic>UBAC2<\/jats:italic> locus.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We established and confirmed the genetic association between <jats:italic>UBAC2<\/jats:italic> and Beh\u00e7et's disease in 3 independent sets of patients and controls. We identified the minor allele in rs7999348 as a disease\u2010risk allele that tags altered <jats:italic>UBAC2<\/jats:italic> expression.<\/jats:p><\/jats:sec>","DOI":"10.1002\/art.30604","type":"journal-article","created":{"date-parts":[[2011,9,1]],"date-time":"2011-09-01T05:27:10Z","timestamp":1314854830000},"page":"3607-3612","source":"Crossref","is-referenced-by-count":39,"title":["A putative functional variant within the <i>UBAC2<\/i> gene is associated with increased risk of Beh\u00e7et's disease"],"prefix":"10.1002","volume":"63","author":[{"given":"Amr H.","family":"Sawalha","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Travis","family":"Hughes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ajay","family":"Nadig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vuslat","family":"Y\u0131lmaz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenan","family":"Aksu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gokhan","family":"Keser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayse","family":"Cefle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayten","family":"Yaz\u0131c\u0131","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anda\u00e7","family":"Ergen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta E.","family":"Alarc\u00f3n\u2010Riquelme","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlo","family":"Salvarani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruno","family":"Casali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haner","family":"Direskeneli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00fcher","family":"Saruhan\u2010Direskeneli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,10,28]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1136\/ard.43.6.783"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1136\/ard.59.8.622"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/art.24149"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1186\/ar757"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-051X.2007.01085.x"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/keh236"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1136\/ard.2003.017467"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-3083.1996.d01-53.x"},{"key":"e_1_2_7_10_2","first-page":"S32","article-title":"Association of salivary S. mutans colonisation and mannose\u2010binding lectin deficiency with gender in Beh\u00e7et's disease","volume":"27","author":"Mumcu G","year":"2009","journal-title":"Clin Exp Rheumatol"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1186\/ar2695"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.625"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.624"},{"key":"e_1_2_7_14_2","first-page":"1078","article-title":"Criteria for diagnosis of Beh\u00e7et's disease","volume":"335","author":"International Study Group for Beh\u00e7et's Disease","year":"1990","journal-title":"Lancet"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bth457"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1086\/519795"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/art.24360"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkl236"},{"key":"e_1_2_7_19_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btq452"},{"key":"e_1_2_7_20_2","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/40.6.668"},{"key":"e_1_2_7_21_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1135245"},{"key":"e_1_2_7_22_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2008.06.006"}],"container-title":["Arthritis &amp; 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