Frequency and phenotype consequence of APOC3 rare variants in patients with very low triglyceride levels.

ABSTRACT:

Background

High levels of triglycerides (TG ≥200 mg/dL) are an emerging risk factor for cardiovascular disease. Conversely, very low levels of TG are associated with decreased risk for cardiovascular disease. Precision medicine aims to capitalize on recent findings that rare variants such as APOC3 R19X (rs76353203) are associated with risk of disease, but it is unclear how population-based associations can be best translated in clinical settings at the individual-patient level.

Methods

To explore the potential usefulness of screening for genetic predictors of cardiovascular disease, we surveyed BioVU, the Vanderbilt University Medical Center's biorepository linked to de-identified electronic health records (EHRs), for APOC3 19X mutations among adult European American patient

SUBMITTER: Crawford DC 

PROVIDER: S-EPMC6156840 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature