Medicine and Health Sciences Commons^™

Sequence Data And Association Statistics From 12,940 Type 2 Diabetes Cases And Controls, Jason Flannick, Christian Fuchsberger, Anubha Mahajan, Tanya M. Teslovich, Vineeta Agarwala, Kyle J. Gaulton, Lizz Caulkins, Rector Arya, Ravi Duggirala, Joanne E. Curran, Satish Kumar, John Blangero

School of Medicine Publications and Presentations

To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple ancestries. Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1–5%) non-coding variants in the whole-genome sequenced individuals and 99.7% of low-frequency coding variants in the whole-exome sequenced individuals. Each variant was tested for association with T2D in the sequenced individuals, and, to increase power, most were tested in larger numbers of individuals (>80% of low-frequency …

Genetic Correlation Of The Plasma Lipidome With Type 2 Diabetes, Prediabetes And Insulin Resistance In Mexican American Families, Hemant Kulkarni, Manju Mamtani, Gerard Wong, Jacquelyn M. Weir, Christopher K. Barlow, Thomas D. Dyer, Laura Almasy, Michael Mahaney, Anthony G. Comuzzie, Ravindranath Duggirala, Peter J. Meikle, John Blangero, Joanne E. Curran

School of Medicine Publications and Presentations

Background

Differential plasma concentrations of circulating lipid species are associated with pathogenesis of type 2 diabetes (T2D). Whether the wide inter-individual variability in the plasma lipidome contributes to the genetic basis of T2D is unknown. Here, we investigated the potential overlap in the genetic basis of the plasma lipidome and T2D-related traits.

Results

We used plasma lipidomic data (1202 pedigreed individuals, 319 lipid species representing 23 lipid classes) from San Antonio Family Heart Study in Mexican Americans. Bivariate trait analyses were used to estimate the genetic and environmental correlation of all lipid species with three T2D-related traits: risk of T2D, …

Genetic Association Analysis Of Polymorphisms In Psd3 Gene With Obesity, Type 2 Diabetes, And Hdl Cholesterol, Shaoqing Gong, Chun Xu, Liang Wang, Ying Liu, Daniel Owusu, Beth A. Bailey, Yujing Li, Kesheng Wang

Health & Biomedical Sciences Faculty Publications and Presentations

Highlights

• First study of PSD3 gene with obesity, type 2 diabetes and HDL cholesterol.

• Identified 23 SNPs associated with obesity with p < 0.05 in gene discovery.

• 20 SNPs were associated with obesity in meta-analysis of two samples.

• 6 SNPs associated with type 2 diabetes and 11 associated with HDL.

• Findings offer new insights into the pathogenesis of obesity and diabetes.

Abstract

Background

The pleckstrin and Sec7 domain-containing 3 (PSD3) gene has been linked to immune diseases. We examined whether the genetic variants within the PSD3 gene are associated with obesity, type 2 diabetes (T2D), and high-density lipoprotein (HDL) cholesterol level.

Methods

Multiple …