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

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.