Association of Rare Protein-Truncating DNA Variants in APOB or PCSK9 With Low-density Lipoprotein Cholesterol Level and Risk of Coronary Heart Disease.

ABSTRACT:

Importance

Protein-truncating variants (PTVs) in apolipoprotein B (APOB) and proprotein convertase subtilisin/kexin type 9 (PCSK9) are associated with significantly lower low-density lipoprotein (LDL) cholesterol concentrations. The association of these PTVs with coronary heart disease (CHD) warrants further characterization in large, multiracial prospective cohort studies.

Objective

To evaluate the association of PTVs in APOB and PCSK9 with LDL cholesterol concentrations and CHD risk.

Design, setting, and participants

This studied included participants from 5 National Heart, Lung, and Blood Institute (NHLBI) studies and the UK Biobank. NHLBI study participants aged 5 to 84 years were recruited between 1971 and 2002 across the US and underwent whole-genome sequencing.

SUBMITTER: Dron JS 

PROVIDER: S-EPMC9996405 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature