Immunogenetics

, Volume 61, Issue 11, pp 739–744

Association of TNFAIP3 polymorphism with rheumatic heart disease in Chinese Han population

  • Rong Hua
  • Ji-bin Xu
  • Jiu-cun Wang
  • Li Zhu
  • bing Li
  • Yang Liu
  • Sheng-dong Huang
  • Li Jin
  • Zhi-yun Xu
  • Xiao-feng Wang
Original Paper

DOI: 10.1007/s00251-009-0405-8

Cite this article as:
Hua, R., Xu, J., Wang, J. et al. Immunogenetics (2009) 61: 739. doi:10.1007/s00251-009-0405-8

Abstract

In a pair-matched case–control study (239 versus 478) conducted in Chinese Han population, we investigated the association between tumor necrosis factor-α-induced protein 3 (TNFAIP3) gene, tumor necrosis factor receptor-associated factor 1 (TRAF1) gene, complement component 5 (C5) gene, and rheumatic heart disease (RHD). We observed no association with RHD for the five tagging single nucleotide polymorphisms (tSNP) in the C5 gene, the three tSNPs in the TNFAIP3 gene, or the two tSNPs in the TRAF1 gene. However, we determined that the tSNP, rs582757, located at intron_5 of the TNFAIP3 gene, associated with RHD in Chinese Han population. Both the distribution of genotype and allele frequencies differed significantly between case and control subjects (p = 0.001 and p = 0.0004, respectively). The minor C allele reduced the risk of RHD with a per-allele odds ratio of 0.57 (0.42–0.78) for the additive model in univariate analysis (p = 0.000). Under a dominant model, CC/CT carriers had a 0.54-fold reduced risk of RHD (95% confidence interval 0.38–0.75, p = 0.000) than TT carriers. Therefore, we report a new genetic variant (rs582757) in the TNFAIP3 gene that associated with the prevalence of RHD in Chinese Han population. Further genetic and functional studies are required to identify the etiological variants in linkage disequilibrium with this polymorphism.

Keywords

Rheumatic heart disease Polymorphism Genetics Association 

Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  • Rong Hua
    • 1
  • Ji-bin Xu
    • 1
  • Jiu-cun Wang
    • 2
    • 3
  • Li Zhu
    • 1
  • bing Li
    • 1
  • Yang Liu
    • 1
  • Sheng-dong Huang
    • 1
  • Li Jin
    • 2
    • 3
  • Zhi-yun Xu
    • 1
  • Xiao-feng Wang
    • 2
    • 3
  1. 1.Department of cardiothoracic surgery, Changhai HospitalSecond Military Medical UniversityShanghaiChina
  2. 2.State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences and Institutes of Biomedical SciencesFudan UniversityShanghaiChina
  3. 3.CMC Institute of Health SciencesTaizhouChina