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Genotyping of 25 SNPs was performed by iPLEX system (Sequenom) or polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). TaqMan real time PCR was used to assess CNVs. The expression of <jats:italic>Rorc<\/jats:italic> and <jats:italic>Foxp3<\/jats:italic> were examined by real-time PCR and cytokine production was measured by ELISA. High <jats:italic>Rorc<\/jats:italic> CNV was associated with the susceptibility to BD (P  =  8.99 \u00d7 10<jats:sup>\u22128<\/jats:sup>, OR  =  3.0) and low <jats:italic>Foxp3<\/jats:italic> CNV predisposed to BD in female patients (P  =  1.92 \u00d7 10<jats:sup>\u22125<\/jats:sup>, OR  =  3.1). CNVs for the investigated genes were not altered in VKH syndrome. Further functional studies demonstrated that the relative mRNA expression levels of <jats:italic>Rorc<\/jats:italic> were increased in individuals with high <jats:italic>Rorc<\/jats:italic> copy number, but not for <jats:italic>Foxp3<\/jats:italic>.  Increased production of IL-1\u03b2 and IL-6 was found in individuals carrying a high CNV of Rorc. Our study showed that high CNVs of <jats:italic>Rorc<\/jats:italic> and low CNVs of <jats:italic>Foxp3<\/jats:italic> confer risk for BD but not for VKH syndrome. The tested 25 SNPs in <jats:italic>TBX21<\/jats:italic>, <jats:italic>GATA3<\/jats:italic>, <jats:italic>Rorc<\/jats:italic> and <jats:italic>Foxp3<\/jats:italic> did not associate with BD and VKH syndrome.<\/jats:p>","DOI":"10.1038\/srep09511","type":"journal-article","created":{"date-parts":[[2015,4,15]],"date-time":"2015-04-15T09:51:13Z","timestamp":1429091473000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Copy Number Variants and Genetic Polymorphisms in TBX21, GATA3, Rorc, Foxp3 and Susceptibility to Behcet's Disease and Vogt-Koyanagi-Harada Syndrome"],"prefix":"10.1038","volume":"5","author":[{"given":"Dan","family":"Liao","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shengping","family":"Hou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Fang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yunjia","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lin","family":"Bai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qingfeng","family":"Cao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"family":"Aize 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":[[2015,4,15]]},"reference":[{"key":"BFsrep09511_CR1","doi-asserted-by":"publisher","first-page":"491","DOI":"10.1016\/j.ophtha.2003.06.014","volume":"111","author":"DC Gritz","year":"2004","unstructured":"Gritz, D. 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