Association of the PTPN22 gene (+1858C/T, -1123G/C) polymorphisms with type 1 diabetes mellitus: a systematic review and meta-analysis

Diabetes Res Clin Pract. 2012 Sep;97(3):446-52. doi: 10.1016/j.diabres.2012.04.011. Epub 2012 May 7.

Abstract

Objective: A meta-analysis was conducted to evaluate the association of PTPN22 gene (+1858C/T -1123G/C) polymorphism with T1DM susceptibility.

Methods: Electronic databases were used to identify published studies before September 2011. We adopted the most appropriate genetic model. The combined odds ratio (OR) with 95% confidence interval (95% CI) was calculated to estimate the strength of the association in a fixed or random effect model. Heterogeneity and publication bias were also assessed.

Results: Totally, 25 case-control studies including 8613 T1DM cases and 10,133 healthy controls (24 studies containing 8129 cases and 9641 controls for PTPN22 +1858C/T, 5 studies including 1460 cases and 1609 controls for PTPN22 -1123G/C) were identified as eligible and analyzed. The most appropriate co-dominant model was adopted. A significant association of PTPN22 +1858C/T gene polymorphism was found in overall population. When stratified by race, significance was observed in Europe and America, but not in Asia. We did not detect any association for PTPN22 -1123G/C polymorphism.

Conclusions: Our study indicated that T1DM is associated with PTPN22 +1858C/T gene polymorphism, and targeting this promoter polymorphism should be dependent on ethnicity. Whether -1123G/C polymorphism is a susceptibility locus for T1DM, further studies with well-designed among different ethnicity populations are required.

Publication types

  • Meta-Analysis
  • Research Support, Non-U.S. Gov't
  • Review
  • Systematic Review

MeSH terms

  • Case-Control Studies
  • Diabetes Mellitus, Type 1 / epidemiology
  • Diabetes Mellitus, Type 1 / ethnology
  • Diabetes Mellitus, Type 1 / genetics*
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Humans
  • Polymorphism, Single Nucleotide* / physiology
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22 / genetics*

Substances

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