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The study was carried out in 950\u2009BD patients and 1440 controls for 19\u2009SNPs in the selected NLR genes. In the first-stage study, significantly decreased frequencies of the CIITA\/\/rs12932187 C allele (Pc\u2009=\u20091.668E-02) and NOD1\/\/rs2075818 G allele (Pc\u2009=\u20094.694E-02) were found in BD patients as compared to controls . After performing a second stage validation study and combination of data we confirmed the association of CIITA\/\/rs12932187 and NOD1\/\/rs2075818 with BD. In CIITA\/\/rs12932187, the frequencies of the CC genotype and C allele were significantly lower in BD than in controls (Pc\u2009=\u20093.331E-06; Pc\u2009=\u20096.004E-07, respectively). In NOD1\/\/rs2075818, the GG genotype and G allele showed significantly decreased frequencies in BD patients when compared to controls (Pc\u2009=\u20091.022E-02; Pc\u2009=\u20096.811E-05, respectively). Functional experiments showed that carriers with the CC genotype in CIITA\/\/rs12932187 had a lower CIITA mRNA expression level and an enhanced IL-10 secretion as compared to GG and CG carriers. This study provides evidence that the CIITA and NOD1 gene are involved in the susceptibility to Behcet\u2019s disease.<\/jats:p>","DOI":"10.1038\/srep20098","type":"journal-article","created":{"date-parts":[[2016,2,1]],"date-time":"2016-02-01T05:55:14Z","timestamp":1454306114000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Genetic Variations of NLR family genes in Behcet\u2019s Disease"],"prefix":"10.1038","volume":"6","author":[{"given":"Lin","family":"Li","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongsong","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanni","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bolin","family":"Deng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lin","family":"Bai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aize","family":"Kijlstra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peizeng","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2016,2,1]]},"reference":[{"key":"BFsrep20098_CR1","doi-asserted-by":"publisher","first-page":"312","DOI":"10.1016\/j.ophtha.2007.04.056","volume":"115","author":"P Yang","year":"2008","unstructured":"Yang, P. et al. 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