title: The ENPP1 K121Q polymorphism is associated with type 2 diabetes and related metabolic phenotypes in a Taiwanese population.
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.
authors.affiliation: College of Public Health and Nutrition, Taipei Medical University, Taipei, Taiwan, ROC.
authors.forename: Tun-Jen
authors.initials: TJ
authors.lastname: Hsiao
authors.affiliation: Institute of Clinical Medical Science, China Medical University, Taichung, Taiwan, ROC; Vita Genomics, Inc., Taipei, Taiwan, ROC; TickleFish Systems Corporation, Seattle, USA. Electronic address: eugene.lin@vitagenomics.com.
authors.forename: Eugene
authors.initials: E
authors.lastname: Lin
mesh_terms: D044466:Asian People / Q000235:genetics; D001786:Blood Glucose / Q000235:genetics; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009765:Obesity / Q000235:genetics; D010641:Phenotype; D010727:Phosphoric Diester Hydrolases / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011755:Pyrophosphatases / Q000235:genetics*; D013624:Taiwan
chemical_list: D001786:Blood Glucose; D010727:Phosphoric Diester Hydrolases; C065962:ectonucleotide pyrophosphatase phosphodiesterase 1; D011755:Pyrophosphatases
keywords: Body mass index; ENPP1; Metabolic phenotypes; Obesity; Single nucleotide polymorphisms; Type 2 diabetes