Molecular Characterization of Familial Hypercholesterolemia in a North American Cohort.

ABSTRACT:

Background

Familial hypercholesterolemia (FH) confers a very high risk of premature cardiovascular disease and is commonly caused by mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), or proprotein convertase subtilisin/kexin type 9 (PCSK9) and very rarely in LDLR adaptor protein 1 (LDLRAP1) genes.

Objective

To determine the prevalence of pathogenic mutations in the LDLR, APOB, and PCSK9 in a cohort of subjects who met Simon Broome criteria for FH and compare the clinical characteristics of mutation-positive and mutation-negative subjects.

Methods

Ninety-three men and 107 women aged 19 to 80 years from lipid clinics in the United States and Canada participated. Demographic and historical data

SUBMITTER: Garg A 

PROVIDER: S-EPMC6977948 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature