The functional TNFAIP3 rs2230926T/G (Phe127Cys) variant confers risk to systemic lupus erythematosus in a Latin American population

Hum Immunol. 2024 Jan;85(1):110736. doi: 10.1016/j.humimm.2023.110736. Epub 2023 Dec 1.

Abstract

TNFAIP3 is a classical systemic lupus erythematosus (SLE)-associated risk locus identified by genome-wide association studies (GWASs) and replicated by candidate gene association studies primarily in Caucasians and Asians. However, in Latin American populations, its role on SLE susceptibility is not known. We conducted a case-control study to evaluate whether the TNFAIP3 rs2230926T/G (Phe127Cys) variant is associated with risk of developing SLE in a cohort of Mexican patients. The TNFAIP3 rs2230926T/G variant was analyzed in 561 patients with SLE and 499 control subjects, using TaqMan probes. We found that the G allele was associated with susceptibility to SLE under the allelic (OR 2.09, p = 0.005) and genotypic (OR 2.14, p = 0.004) models. In conclusion, our results show that TNFAIP3 rs2230926T/G is a risk factor for the development of SLE in the Mexican population.

Keywords: Single nucleotide variant; Susceptibility; Systemic lupus erythematosus; TNFAIP3.

MeSH terms

  • Case-Control Studies
  • DNA-Binding Proteins / genetics
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study*
  • Humans
  • Latin America
  • Lupus Erythematosus, Systemic* / genetics
  • Polymorphism, Single Nucleotide
  • Tumor Necrosis Factor alpha-Induced Protein 3 / genetics

Substances

  • DNA-Binding Proteins
  • TNFAIP3 protein, human
  • Tumor Necrosis Factor alpha-Induced Protein 3