TNFAIP3 gene polymorphisms confer risk for Behcet’s disease in a Chinese Han population
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- Li, H., Liu, Q., Hou, S. et al. Hum Genet (2013) 132: 293. doi:10.1007/s00439-012-1250-7
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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 χ2 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 (pc) = 1.83 × 10−10, odds ratio (OR) [95 % CI] 2.03 [1.65–2.49]; pc = 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 (pc = 1.23 × 10−10, OR [95 % CI] 0.50 [0.40–0.61]; pc = 8.35 × 10−10, OR [95 % CI] 0.55 [0.46–0.66], respectively). For rs10499194, a higher frequency of the CC genotype (pc = 0.015, OR [95 % CI] 1.96 [1.30–2.97]) and C allele (pc = 0.005, OR [95 % CI] 1.92 [1.28–2.90]), and a lower frequency of the TC genotype (pc = 0.015, OR [95 % CI] 0.51 [0.34–0.77]) and T allele (pc = 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 (pc = 0.015, OR [95 % CI] 1.49 [1.17–1.91]) and C allele (pc = 0.025, OR [95 % CI] 1.39 [1.11–1.76]), and a lower frequency of the AA genotype (pc = 0.03, OR [95 % CI] 0.68 [0.53–0.87]) and A allele (pc = 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.