Polygenic risk score for hypercholesterolemia in a Brazilian familial hypercholesterolemia cohort.

ABSTRACT:

Background and aims

Familial hypercholesterolemia (FH) is a genetic disorder characterized by high levels of LDL-C leading to premature cardiovascular disease (CAD). Only about 40% of individuals with a clinical diagnosis of FH have a causative genetic variant identified, and a proportion of genetically negative cases may have a polygenic cause rather than a still unidentified monogenic cause. This work aims to evaluate and validate the role of a polygenic risk score (PRS) associated with hypercholesterolemia in a Brazilian FH cohort and its clinical implications.

Methods

We analyzed a previously derived PRS of 12 and 6 SNPs (Single Nucleotide Polymorphism) in 684 FH individuals (491 mutation-negative [FH/M-], 193 mutation-positive [FH/M+]) and in 1605 controls. Coronary art

SUBMITTER: Lima IR 

PROVIDER: S-EPMC9833269 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature