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Abstract

The study was to investigate the association of rs7574865 polymorphism in STAT4 with Vogt-Koyanagi-Harada (VKH) syndrome and Behcet's disease (BD) in a Chinese Han population. Genotyping of rs7574865 polymorphism in the STAT4 gene was performed using polymerase chain reaction restriction fragment length polymorphisms (PCR-RFLP) in 379 VKH patients, 366 BD patients and 414 controls. The 20% of the samples were sequenced to validate PCR-RFLP result. A binary logistic regression analysis was used to assess the influence of the gender on the association of STAT4 polymorphism with BD. A significantly increased frequency of TT genotype of the STAT4 rs7574865 was observed in VKH patients (p=0.013). GT genotypic frequency was significantly lower in BD patients than in controls (p=0.003) However, the significance of rs7574865 was lost in all tested BD patients when adjusted for gender (p=0.775). A significantly lower frequency of GT genotype and a significantly higher frequency of GG genotype was found in male BD patients as compared with male controls (p=0.000458, p=0.009, respectively). Stratification analysis according to tinnitus, alopecia, poliosis, headache and vitiligo for VKH syndrome and oral ulceration, genital ulceration, skin lesions and arthritis for BD failed to find any association between the tested SNP and any one of the extraocular findings. Our results suggest that TT genotype of rs7574865 may be a susceptible factor to VKH syndrome in a Chinese Han population, and that GG genotype of this SNP may confer susceptibility to male BD patients.