Loss-of-function mutations in APOC3, triglycerides, and coronary disease.

ABSTRACT:

Background

Plasma triglyceride levels are heritable and are correlated with the risk of coronary heart disease. Sequencing of the protein-coding regions of the human genome (the exome) has the potential to identify rare mutations that have a large effect on phenotype.

Methods

We sequenced the protein-coding regions of 18,666 genes in each of 3734 participants of European or African ancestry in the Exome Sequencing Project. We conducted tests to determine whether rare mutations in coding sequence, individually or in aggregate within a gene, were associated with plasma triglyceride levels. For mutations associated with triglyceride levels, we subsequently evaluated their association with the risk of coronary heart disease in 110,970 persons.

Results

An aggregate of rare

SUBMITTER: TG and HDL Working Group of the Exome Sequencing Project, National Heart, Lung, and Blood Institute 

PROVIDER: S-EPMC4180269 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature