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1. The ENPP1 K121Q polymorphism is associated with type 2 diabetes in European populations: evidence from an updated meta-analysis in 42,042 subjects.
作者: Jarred B McAteer.;Sabrina Prudente.;Simonetta Bacci.;Helen N Lyon.;Joel N Hirschhorn.;Vincenzo Trischitta.;Jose C Florez.; .
来源: Diabetes. 2008年57卷4期1125-30页
Functional studies suggest that the nonsynonymous K121Q polymorphism in the ectoenzyme nucleotide pyrophosphate phosphodiesterase 1 (ENPP1) may confer susceptibility to insulin resistance; genetic evidence on its effect on type 2 diabetes, however, has been conflicting. We therefore conducted a new meta-analysis that includes novel unpublished data from the ENPP1 Consortium and recent negative findings from large association studies to address the contribution of K121Q to type 2 diabetes.
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