Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease.

ABSTRACT:

Background

The discovery of low-frequency coding variants affecting the risk of coronary artery disease has facilitated the identification of therapeutic targets.

Methods

Through DNA genotyping, we tested 54,003 coding-sequence variants covering 13,715 human genes in up to 72,868 patients with coronary artery disease and 120,770 controls who did not have coronary artery disease. Through DNA sequencing, we studied the effects of loss-of-function mutations in selected genes.

Results

We confirmed previously observed significant associations between coronary artery disease and low-frequency missense variants in the genes LPA and PCSK9. We also found significant associations between coronary artery disease and low-frequency missense variants in the genes SVEP1 (p.D2702G; m

SUBMITTER: Myocardial Infarction Genetics and CARDIoGRAM Exome Consortia Investigators 

PROVIDER: S-EPMC4850838 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature