Purpose: To investigate the association of CARD9 gene polymorphisms with Behcet's disease (BD) and acute anterior uveitis (AAU) in a Chinese Han population.Methods: We performed a case-control association study in 480 patients with BD, 1151 patients with AAU and 1440 healthy controls. Six single nucleotide polymorphisms (SNPs) of CARD9 were genotyped, including rs4077515, rs11145769, rs59902911, rs9411205, rs4073153 and rs1135314.Results: None of the individual SNPs in the CARD9 gene showed an association with either BD or AAU. Haplotype analysis revealed a significant decrease of the frequency of a CARD9 gene haplotype CGCCA (rs4077515, rs11145769, rs59902911, rs9411205, rs4073153) in BD when compared to healthy controls (Pc = 0.012, OR = 0.585, 95%CI = 0.409 ~ 0.837). Haplotype analysis did not show an association between CARD9 and AAU.Conclusions: This study shows that a five-SNP haplotype of the CARD9 gene (CGCCA) may be a protective factor for BD with ocular involvement, but not for AAU.
Keywords: Acute anterior uveitis; Behcet’s disease; CARD9; haplotype; single nucleotide polymorphism.