TNFAIP3 gene polymorphisms confer risk for Behcet's disease in a Chinese Han population

The tumor necrosis factor alpha-inducible protein 3 (TNFAIP3) gene polymorphisms have recently been reported to be associated with the susceptibility to several immune-related diseases. This study was performed to evaluate the potential association of TNFAIP3 polymorphisms with Behcet's disease (BD) in a Chinese Han population. Five single-nucleotide polymorphisms (SNPs), rs10499194, rs610604, rs7753873, rs5029928, and rs9494885 of TNFAIP3 were genotyped in 722 BD patients and 1,415 healthy controls using a PCR-restriction fragment length polymorphism assay. Allele and genotype frequencies were compared between patients and controls using the χ (2) test. The results showed a significantly increased prevalence of the rs9494885 TC genotype and C allele in BD patients compared with controls (Bonferroni corrected p (p (c)) = 1.83 × 10(-10), odds ratio (OR) [95% CI] 2.03 [1.65-2.49]; p (c) = 8.35 × 10(-10), OR [95% CI] 1.81 [1.51-2.18], respectively).The frequency of the TT genotype and T allele of rs9494885 was markedly lower in BD patients than that in controls (p (c) = 1.23 × 10(-10), OR [95% CI] 0.50 [0.40-0.61]; p (c) = 8.35 × 10(-10), OR [95% CI] 0.55 [0.46-0.66], respectively). For rs10499194, a higher frequency of the CC genotype (p (c) = 0.015, OR [95% CI] 1.96 [1.30-2.97]) and C allele (p (c) = 0.005, OR [95% CI] 1.92 [1.28-2.90]), and a lower frequency of the TC genotype (p (c) = 0.015, OR [95% CI] 0.51 [0.34-0.77]) and T allele (p (c) = 0.005, OR [95% CI] 0.52 [0.35-2.97]) were found in BD patients. Concerning rs7753873, a higher frequency of the AC genotype (p (c) = 0.015, OR [95% CI] 1.49 [1.17-1.91]) and C allele (p (c) = 0.025, OR [95% CI] 1.39 [1.11-1.76]), and a lower frequency of the AA genotype (p (c) = 0.03, OR [95% CI] 0.68 [0.53-0.87]) and A allele (p (c) = 0.025, OR [95% CI] 0.72 [0.57-0.91]) were observed in BD patients. This study identified one strong risk SNP rs9494885 and two weak risk SNPs rs10499194 and rs7753873 of TNFAIP3 in Chinese Han BD patients.