PTPN22 gene polymorphism in Takayasu's arteritis

Rheumatology (Oxford). 2008 May;47(5):634-5. doi: 10.1093/rheumatology/ken106. Epub 2008 Mar 29.


Objective: Takayasu's arteritis (TA) is a chronic, rare granulomatous panarteritis of unknown aetiology involving mainly the aorta and its major branches. In this study, genetic susceptibility to TA has been investigated by screening the functional single nucleotide polymorphism (SNP) of PTPN22 gene encoding the lymphoid-specific protein tyrosine phosphatase.

Methods: Totally, 181 patients with TA and 177 healthy controls are genotyped by PCR-RFLP method for the SNP rs2476601 (A/G) of PTPN22 gene. Polymorphic region was amplified by PCR and digested with Xcm I enzyme.

Results: Detected frequencies of heterozygous genotype (AG) were 5.1% (9/177) in control group and 3.8% (7/181) in TA group (P = 0.61, odds ratio: 0.75, 95% CI: 0.3, 2.0). No association with angiographic type, vascular involvement or prognosis of TA was observed either.

Conclusion: The distribution of PTPN22 polymorphism did not reveal any association with TA in Turkey.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Case-Control Studies
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single Nucleotide*
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22 / genetics*
  • Takayasu Arteritis / genetics*
  • Turkey


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