Association of TBX21 gene polymorphisms and acute anterior uveitis risk in a Chinese population: A case-control study

Exp Eye Res. 2023 Apr:229:109417. doi: 10.1016/j.exer.2023.109417. Epub 2023 Feb 14.

Abstract

Copy number variations (CNVs) in TBX21 gene have been reported to be significantly and positively correlated with acute anterior uveitis (AAU). Our study was performed to further determine whether single nucleotide polymorphisms (SNPs) in TBX21 gene confer susceptibility to AAU in a Chinese population. In our case-control study, 420 AAU patients and 918 healthy controls were included. SNP genotyping was conducted via the MassARRAY™ iPLEX Gold platform. Association and haplotype analyses were performed via SPSS 23.0 and SHEsis software. No significant association was observed between two candidate SNPs of TBX21 gene (rs4794067, rs11657479) and susceptibility to AAU (Pc > 0.05). In stratification analysis, the result also showed no significant difference between the HLA-B27 positive AAU patients and non-typed healthy controls. Additionally, no association was detected between TBX21 haplotypes and AAU risk. In conclusion, the polymorphisms rs4794067 and rs11657479 in TBX21 gene did not confer disease susceptibility to AAU in a Chinese population.

Keywords: Acute anterior uveitis; Polymorphism; TBX21; rs11657479; rs4794067.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acute Disease
  • Case-Control Studies
  • DNA Copy Number Variations
  • East Asian People
  • Genetic Predisposition to Disease*
  • Genotype
  • HLA-B27 Antigen / genetics
  • Humans
  • T-Box Domain Proteins* / genetics
  • T-bet Transcription Factor
  • Uveitis, Anterior* / genetics

Substances

  • HLA-B27 Antigen
  • T-bet Transcription Factor
  • T-Box Domain Proteins