Human Genetics

, Volume 132, Issue 3, pp 293–300

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

  • Hong Li
  • Qing Liu
  • Shengping Hou
  • Liping Du
  • Qingyun Zhou
  • Yan Zhou
  • Aize Kijlstra
  • Zheng Li
  • Peizeng Yang
Original Investigation

Abstract

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.

Supplementary material

439_2012_1250_MOESM1_ESM.docx (13 kb)
Supplementary material 1 (DOCX 13 kb)

Copyright information

© Springer-Verlag Berlin Heidelberg 2012

Authors and Affiliations

  • Hong Li
    • 1
  • Qing Liu
    • 2
  • Shengping Hou
    • 1
  • Liping Du
    • 1
  • Qingyun Zhou
    • 1
  • Yan Zhou
    • 1
  • Aize Kijlstra
    • 3
  • Zheng Li
    • 4
  • Peizeng Yang
    • 1
  1. 1.The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology, and Chongqing Eye InstituteChongqingPeople’s Republic of China
  2. 2.The First Affiliated Hospital of Chongqing Medical University, The Clinical Research CenterChongqingPeople’s Republic of China
  3. 3.University Eye Clinic MaastrichtMaastrichtThe Netherlands
  4. 4.Ocular Genomics, Singapore Eye Research InstituteSingaporeSingapore

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