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

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

Abstract

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.

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

MeSH terms

  • Asian People / genetics
  • Blood Glucose / genetics
  • Diabetes Mellitus, Type 2 / genetics*
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Obesity / genetics
  • Phenotype
  • Phosphoric Diester Hydrolases / genetics*
  • Polymorphism, Single Nucleotide / genetics*
  • Pyrophosphatases / genetics*
  • Taiwan

Substances

  • Blood Glucose
  • Phosphoric Diester Hydrolases
  • ectonucleotide pyrophosphatase phosphodiesterase 1
  • Pyrophosphatases