A single-nucleotide polymorphism of the TNFAIP3 gene is associated with systemic lupus erythematosus in Chinese Han population

Mol Biol Rep. 2010 Jan;37(1):389-94. doi: 10.1007/s11033-009-9818-6.


Systemic lupus erythematosus (SLE) is a complex systemic disease influenced by genetic and environmental factors. The exact pathogenesis of SLE is still unknown. Recently, several genome-wide association studies (GWA) in European population have found many novel susceptibility genes for SLE including TNFAIP3. In order to examine whether TNFAIP3 is associated with SLE in Chinese Han population, we genotyped one of its non-synonymous mutation SNP rs2230926, showing significant association evidence with SLE in European population, with 1,420 cases and 4,461 controls of Chinese Han by using Sequenom MassArray system. Highly significant association between SNP rs2230926 and SLE of Chinese Han was detected [OR = 1.65, 95% confidence interval (CI): 1.392-1.986, P = 2.03 x 10(-8)]. Interestingly, rs2230926 of TNFAIP3 was also associated with arthritis, ANA and some other subphenotypes of the disease. Our findings suggest that SNP rs2230926 in the TNFAIP3 might be a common genetic factor for SLE within different populations in terms of Chinese Han and European population.

MeSH terms

  • Adult
  • Asian Continental Ancestry Group / genetics*
  • Case-Control Studies
  • China
  • DNA-Binding Proteins
  • Ethnic Groups / genetics*
  • Female
  • Gene Expression Regulation
  • Gene Frequency / genetics
  • Genetic Predisposition to Disease*
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Leukocytes, Mononuclear / metabolism
  • Lupus Erythematosus, Systemic / genetics*
  • Male
  • Nuclear Proteins / genetics*
  • Polymorphism, Single Nucleotide / genetics*
  • Tumor Necrosis Factor alpha-Induced Protein 3


  • DNA-Binding Proteins
  • Intracellular Signaling Peptides and Proteins
  • Nuclear Proteins
  • TNFAIP3 protein, human
  • Tumor Necrosis Factor alpha-Induced Protein 3