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Mol Cell Endocrinol. 2016 Sep 15;433:20-5. doi: 10.1016/j.mce.2016.05.020. Epub 2016 May 26.

The ENPP1 K121Q polymorphism is associated with type 2 diabetes and related metabolic phenotypes in a Taiwanese population.

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College of Public Health and Nutrition, Taipei Medical University, Taipei, Taiwan, ROC.
Institute of Clinical Medical Science, China Medical University, Taichung, Taiwan, ROC; Vita Genomics, Inc., Taipei, Taiwan, ROC; TickleFish Systems Corporation, Seattle, USA. Electronic address:


Increased risk of developing type 2 diabetes (T2D) has been associated with a single nucleotide polymorphism (SNP), rs1044498 (K121Q), in the ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene, but this association is unclear among Asians. In this replication study, we reassessed whether the ENPP1 rs1044498 SNP is associated with T2D, obesity, and T2D/obesity-related metabolic traits in a Taiwanese population. A total of 1513 Taiwanese subjects were assessed in this study. The ENPP1 rs1044498 SNP was genotyped by the Taqman assay. T2D/Obesity-related quantitative traits, such as waist circumference and fasting glucose, were measured. Our data showed a significant association of the ENPP1 rs1044498 SNP with T2D (P < 0.001) among the subjects. Moreover, the ENPP1 rs1044498 SNP was significantly associated with T2D/obesity-related metabolic traits, such as waist circumference (P = 0.002) and fasting glucose (P < 0.001), among the subjects. However, we found no association of ENPP1 rs1044498 with obesity (BMI ≧ 27 kg/m(2)). Our study indicates that the ENPP1 rs1044498 SNP is associated with T2D, waist circumference, and fasting glucose in Taiwanese subjects.


Body mass index; ENPP1; Metabolic phenotypes; Obesity; Single nucleotide polymorphisms; Type 2 diabetes

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