Association of PTPN22 with rheumatoid arthritis among South Asians in the UK

J Rheumatol. 2007 Oct;34(10):1984-6. Epub 2007 Aug 1.

Abstract

Objective: To compare the distribution and assess genetic associations of the PTPN22 R620W single-nucleotide polymorphism among South Asian (Asiatic Indian) patients with rheumatoid arthritis (RA) and ethnically matched controls.

Methods: DNA samples from 133 rheumatoid factor-positive South Asian RA patients and 149 control subjects from the East Midlands of the UK were genotyped for PTPN22 R620W polymorphism. Genotyping was performed by the polymerase chain reaction-restriction fragment length polymorphism method.

Results: The PTPN22 *T allele frequency was lower than in the Caucasian populations, but the disease association was significant (odds ratio 5.87, 95% confidence interval 1.68-20.52). Similar association was observed for genotypes containing *T allele.

Conclusion: Our results suggest that the T variant acts as a susceptibility allele for autoantibody-positive RA among South Asians.

MeSH terms

  • Arthritis, Rheumatoid / genetics*
  • Asia, Southeastern / ethnology
  • Asian People / genetics*
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Polymorphism, Single Nucleotide*
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22 / genetics*
  • United Kingdom

Substances

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