Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE

Am J Hum Genet. 2004 Sep;75(3):504-7. doi: 10.1086/423790. Epub 2004 Jul 23.

Abstract

We genotyped 525 independent North American white individuals with systemic lupus erythematosus (SLE) for the PTPN22 R620W polymorphism and compared the results with data generated from 1,961 white control individuals. The R620W SNP was associated with SLE (genotypic P=.00009), with estimated minor (T) allele frequencies of 12.67% in SLE cases and 8.64% in controls. A single copy of the T allele (W620) increases risk of SLE (odds ratio [OR]=1.37; 95% confidence interval [CI] 1.07-1.75), and two copies of the allele more than double this risk (OR=4.37; 95% CI 1.98-9.65). Together with recent evidence showing association of this SNP with type 1 diabetes and rheumatoid arthritis, these data provide compelling evidence that PTPN22 plays a fundamental role in regulating the immune system and the development of autoimmunity.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Disease Progression
  • European Continental Ancestry Group
  • Gene Frequency
  • Genes, Dominant
  • Genes, Recessive
  • Genotype
  • Humans
  • Lupus Erythematosus, Systemic / genetics*
  • North America
  • Odds Ratio
  • Polymorphism, Genetic*
  • Protein Tyrosine Phosphatase, Non-Receptor Type 1
  • Protein Tyrosine Phosphatases / genetics*

Substances

  • Protein Tyrosine Phosphatase, Non-Receptor Type 1
  • Protein Tyrosine Phosphatases