PD-1 Polymorphisms Are Associated with Susceptibility of Acute Anterior Uveitis in Chinese Population.

Acute anterior uveitis (AAU) is an ordinary type of uveitis, which is an autoimmune disease produced by T cells. Programmed apoptosis protein 1 (PD-1) is a vital negative regulatory protein of immune tolerance. We detect the single nucleotide polymorphisms (SNPs) rs41386349, rs10204525, and rs2227982 of PD-1 to investigate the correlation between PD-1 polymorphisms and AAU. A total of 166 AAU patients and 263 controls were recruited in this case-control study. Compared with controls, the frequencies of the GG genotypes were higher in rs10204525 in AAU patients (p = 0.012). There were obvious increases in frequencies of the TT genotypes in rs2227982 and the GG genotypes in rs10204525 in human leukocyte antigen (HLA)-B27-negative AAU patients compared with controls (p = 0.03; p = 0.015, respectively). There were also increases in frequencies of TT genotypes in rs2227982 and the GG genotypes in rs10204525 in the patients without ankylosing spondylitis (AS) when compared with controls (p = 0.021; p = 0.003, respectively). Furthermore, the frequencies of TT genotypes in rs2227982 were higher in female patients diagnosed with AAU than with control group (p = 0.033). Our results showed that SNPs rs2227982 and rs10204525 were interrelated to AAU; the influence on AAU could be related with gender, HLA-B27, and AS status.