BackgroundThe 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.

Methodology/principal findings Five single-nucleotide polymorphisms (SNPs), rs10499194, rs610604, rs7753873, rs5029928 and rs9494885 of TNFAIP3 were genotyped in 578 BD patients and 1032 healthy controls using a PCR-restriction fragment length polymorphism assay. Allele and genotype frequencies were compared between patients and controls using the χ2 test.The results showed a significantly increased prevalence of the rs9494885 TC genotype and C allele in BD patients compared with controls (corrected p (pc) = 1.693 ×10⁻⁷, odds ratio (OR)1.92; Pc=7.2×10⁻⁷, OR1.712, respectively). The frequency of TT genotype and T allele of rs9494885 was markedly lower in BD patients than that in controls (pc=1.22 ×10⁻⁷, OR 0.521; Pc=7.2×10⁻⁷, OR 0.584, respectively). For rs10499194, a significantly higher frequency of the C allele (pc=0.02, OR 1.951) and a significantly lower frequency of T allele (pc =0.02, OR0.513) were found in BD patients compared with controls. There were no differences in the frequencies of rs10499194 genotypes and the frequencies of genotype and allele of rs610604, rs7753873 and rs5029928(pc ＞0.05) between BD patients and healthy controls in the Chinese Han population.

 Conclusions/significance  This study identified one strong risk SNP rs9494885 and one weak risk SNP rs10499194 of TNFAIP3 with in Chinese Han BD patients, for the first time..