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This study aimed to investigate the role of genetic variants including single nucleotide polymorphisms (SNPs) and copy number variants (CNVs) of  TBX21 ,  GATA3 ,  Rorc  and  Foxp3  genes in Behcet's disease (BD) and Vogt-Koyanagi-Harada (VKH) syndrome in a Chinese Han population. 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  Rorc  and  Foxp3  were examined by real-time PCR and cytokine production was measured by ELISA. High  Rorc  CNV was associated with the susceptibility to BD (P = 8.99 × 10 −8 , OR = 3.0), and low  Foxp3  CNV predisposed to BD in female patients (P = 1.92 × 10 −5 , 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  Rorc  were increased in individuals with high  Rorc  copy number, but not for  Foxp3 . Increased production of IL-1β and IL-6 was found in individuals carrying a high CNV of Rorc. Our study showed that high CNVs of  Rorc  and low CNVs of  Foxp3  confer risk for BD but not for VKH syndrome. The tested 25 SNPs in  TBX21 ,  GATA3 ,  Rorc  and  Foxp3  did not associate with BD and VKH syndrome.

Copy Number Variants and Genetic Polymorphisms in TBX21, GATA3, Rorc, Foxp3 and Susceptibility to Behcet's Disease and Vogt-Koyanagi-Harada Syndrome