Population-based and family-based studies on the protein tyrosine phosphatase non-receptor 22 gene polymorphism and type 1 diabetes: a meta-analysis
Related Experiment Video
Updated: May 15, 2026

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing (ChIP-seq)
Published on: April 19, 2013
Xiao-Feng Wang1, Zi-Xian Chen, Yun-Chao Shao
1Department of Orthopedic Surgery, Zhongshan Hospital, Fudan University, Shanghai, PR China.
Purpose:
Studies investigating the association between PTPN22 gene C1858T polymorphism and type 1 diabetes (T1D) susceptibility among Caucasian population have reported conflicting results. To investigate this inconsistency, we performed a meta-analysis of all available studies dealing with the relationship between the PTPN22 C1858T polymorphism and T1D.
Methods:
Databases including PubMed, Web of Science, and EMBASE were searched to find relevant studies. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of association.
Results:
In total, 33 population-based studies with 22, 485 cases and 35, 292 controls, 9 family-based studies involving 7276 families were included. Under the random-effects model, the per-allele overall OR of the C1858T polymorphism for T1D was 1.89 (95% CI: 1.76-2.02, P<10(-5)) by pooling all available case-control studies. In addition, we found significant evidence for overtransmission of the risk T allele in family-based studies (overall OR (TDT)=1.58, 95% CI: 1.43-1.74; P<10(-5)). The summary OR from case-control and family-based association studies was 1.81 (95% CI: 1.70-1.93, P<10(-5)).
Conclusions:
In conclusion, this meta-analysis suggests that C1858T polymorphism in PTPN22 is associated with elevated T1D risk among Caucasian population.
Related Concept Videos
Type II Diabetes I: Introduction
Type II Diabetes II: Pathophysiology
Type I Diabetes II: Pathophysiology
Type I Diabetes I: Introduction
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Diabetes Mellitus: Type 2 and Gestational

