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Association between PTPN1 Single Nucleotide Polymorphisms and Type 2 Diabetes Mellitus: A Meta-analysis

Jun Wang, Hai-Lei Cui and Xue-Lian Lan

Background: Previous studies have reported the association of PTPN1 single nucleotide polymorphisms (SNPs) and type 2 diabetes mellitus (T2DM) incidence. But the results remain inconclusive.

Methods: We performed a meta-analysis on the association between PTPN1 SNPs and T2DM with pooled studies available. PubMed and EMBASE databases were searched up to June 15 2015. Case-control studies on the association between PTPN1 SNPs and T2DM susceptibility were included. The pooled association strength between PTPN1 SNPs and T2DM susceptibility was measured by odds ratio (OR) with 95% confidence intervals (95% CI) using random-effects model.

Findings: rs2230605(A>G) (A vs G : OR 1.13, 95% CI 0.72-1.78; AG vs AA: 1.17, 0.72- 1.91) and rs1689673(148insG) (G vs O: 1.07, 0.93-1.25) were positively associated with T2DM susceptibility, whereas rs2230604(C>T) (TT vs CC: 0.74, 0.47-1.16; CT+TT vs CC: 0.89, 0.79-1.00; TT vs CT+CC: 0.76, 0.48-1.20), rs6126033(C>T) (T vs C: 0.86, 0.64-1.16; CT vs CC: 0.87, 0.66-1.14; TT vs CC: 0.85, 0.24-3.04; CT+TT vs CC: 0.86, 0.64-1.15; TT vs CT+CC: 0.86, 0.24-3.09); and rs2426159(A>G) (GG vs AA: 0.85, 0.65-1.10; AG+GG vs AA: 0.90, 0.75-1.08; GG vs AG+AA: 0.90, 0.74-1.10) were reversely correlated with T2DM.

Conclusions: Most of the SNPs genotyped were located at non-coding regions of PTPN1, suggesting that intact PTPN1 protein is essential for individual survival and growth. And the frequently observed reverse correlations between T2DM susceptibility and SNPs within non-coding regions of PTPN1 suggest that those SNPs have negative impacts on PTPN1 gene transcription.