Dataset Information

Genetic variants of the ENPP1/PC-1 gene are associated with hypertriglyceridemia in male subjects.

ABSTRACT: Hypertriglyceridemia is associated with insulin resistance, type 2 diabetes, and the metabolic syndrome. Membrane glycoprotein PC-1 (also termed ENPP1) is a direct insulin receptor inhibitor, and certain polymorphisms of the ENPP1/PC-1 gene have been associated with insulin resistance, type 2 diabetes, obesity, and diabetic complications.We examined the effect of 3 ENPP1/PC-1 variants (K121Q, rs1044498, and IVS20delT-11, rs1799774, and A-->G+1044TGA, rs7754561) on plasma triglyceride levels in 1112 subjects of non-Hispanic American white European ancestry.Two of the ENPP1/PC-1 variants--A-->G+1044TGA (odds ratio [OR] 1.48, 95% confidence interval [CI], 1.54-1.82, P = 0.002) and IVS20delT-11 (OR 1.41, 95% CI, 1.08-1.84, P = 0.012)--were significantly associated with hypertriglyceridemia. Haplotype analyses also revealed an association with hypertriglyceridemia. In the variant analyses and in the haplotype analysis, the associations with hypertriglyceridemia were observed in male but not female subjects. Interestingly, the more widely studied K121Q ENPP1/PC-1 variant was not associated with hypertriglyceridemia in any group or subgroup analysis.In the present study, we find that genetic variants of the ENPP1/PC-1 gene are associated with hypertriglyceridemia in male subjects, and may contribute to the development of the insulin resistance/metabolic syndrome in this population.

SUBMITTER: Tanyolac S

PROVIDER: S-EPMC3139525 | biostudies-literature | 2009 Dec

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Genetic variants of the ENPP1/PC-1 gene are associated with hypertriglyceridemia in male subjects.

Tanyolaç Sinan S Bremer Andrew A AA Hodoglugil Uğur U Movsesyan Irina I Pullinger Clive R CR Heiner Steven W SW Malloy Mary J MJ Kane John P JP Goldfine Ira D ID

Metabolic syndrome and related disorders 20091201 6

<h4>Background</h4>Hypertriglyceridemia is associated with insulin resistance, type 2 diabetes, and the metabolic syndrome. Membrane glycoprotein PC-1 (also termed ENPP1) is a direct insulin receptor inhibitor, and certain polymorphisms of the ENPP1/PC-1 gene have been associated with insulin resistance, type 2 diabetes, obesity, and diabetic complications.<h4>Methods</h4>We examined the effect of 3 ENPP1/PC-1 variants (K121Q, rs1044498, and IVS20delT-11, rs1799774, and A-->G+1044TGA, rs7754561) ...[more]

PMID: 19656007

Similar Datasets

Project description:BackgroundHypercholesterolemia is one of the most common risk factors for Coronary Artery Disease (CAD), which is the leading cause of death worldwide. As Numb is an important regulating factor regarding intestinal cholesterol absorption and plasma cholesterol level, the aim of the present study is to investigate the relationship between human Numb gene polymorphism and cholesterol level in Chinese subjects.MethodsAll participants came from the First Affiliated Hospital of Xinjiang Medical University (Male: 1052 and Female: 596), and four tagging SNPs (rs2108552, rs12435797, rs1019075 and rs17781919) of Numb gene were genotyped by using TaqMan assays and analyzed in an ABI 7900HT Fast Real-Time PCR System. Further, general liner model was applied for assessing the relationship between cholesterol level and genotypes.ResultsBy analyzing a dominant model, recessive model and an additive model, we have found that SNP rs2108552 was associated with total cholesterol (TC) and low density lipoprotein-cholesterol level (LDL-C) (P = 0.000 and P = 0.007; P =0.042 and P =0.009; P = 0.006 and P = 0.030). C allele of SNP rs17781919 had significantly lower plasma TC level (3.46 ± 0.74 mmol/L vs 4.27 ± 1.1 mmol/L) and LDL-C level (0.98 ± 0.55 mmol/L vs 2.64 ± 0.93 mmol/L) when compared with T allele. Additionally, SNP rs12435797 was associated with TC level and SNP rs1019075 was associated with LDL-C level by analyses of a dominant model, recessive model and an additive model (P = 0.000, P = 0.005 and P = 0.004; P = 0.016, P = 0.008 and P = 0.033). Further, the association of rs2108552, rs12435797, rs1019075 and rs17781919 with aforementioned different kinds of cholesterol levels remained statistically significant after multivariate adjustment of ethnicity, gender, age, smoking and obesity.ConclusionsOur results indicated that both rs2108552 and rs17781919 in the Numb gene were associated with total cholesterol level and density lipoprotein-cholesterol level in Chinese subjects.

Dataset Information

Genetic variants of the ENPP1/PC-1 gene are associated with hypertriglyceridemia in male subjects.

Publications

Genetic variants of the ENPP1/PC-1 gene are associated with hypertriglyceridemia in male subjects.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets