Association between the PTPN22 1858C/T gene polymorphism and tuberculosis resistance

Infect Genet Evol. 2013 Jun:16:310-3. doi: 10.1016/j.meegid.2013.02.019. Epub 2013 Mar 14.

Abstract

Previous studies identified the functional polymorphism 1858C/T in the gene PTPN22 in association with several autoimmune diseases and with resistance to tuberculosis (TB). This study is the first to investigate the association between pulmonary TB and the PTPN22 1858C/T polymorphism in the Brazilian Amazon. We conducted a case-control study involving a group of 413 individuals, comprised of 208TB carriers and 205 controls. No significant association between the PTPN22 1858T allele frequency in controls (2.4%) and TB carriers (2.7%, p=0.982, odds ratio (OR)=0.89, 95% confidence interval=0.37-2.13) was identified in the Brazilian Amazon population. An additional evaluation by meta-analysis, however, suggested a protective role of the T allele in relation to TB (pooled OR=0.44, p=0.011). These results suggest that the PTPN22 1858T allele serves as a protective genetic factor for TB in those individuals who carry this minor allele.

Publication types

  • Meta-Analysis

MeSH terms

  • Alleles
  • Case-Control Studies
  • Disease Resistance
  • Genetic Association Studies
  • Humans
  • Mutation
  • Odds Ratio
  • Polymorphism, Single Nucleotide
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22 / genetics*
  • Tuberculosis, Pulmonary / genetics*

Substances

  • PTPN22 protein, human
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22