Polygenic Hypercholesterolemia and Cardiovascular Disease Risk.

ABSTRACT:

Purpose of the review

Identification of loci and common single-nucleotide polymorphisms (SNPs) that have modest effects on plasma lipids have been used to confirm or refute the causal role of lipid traits in the development of coronary heart disease (CHD), and as tools to identify individuals with polygenic hypercholesterolemia.

Recent findings

Several groups have reported on the use of SNP scores in distinguishing individuals with a clinical diagnosis of familial hypercholesterolemia (FH) with a monogenic or polygenic etiology. We review evidence that those with monogenic FH have worse prognosis and discuss the possible mechanisms for this and their management. Individuals with a clinical phenotype of FH and a monogenic cause are at greater risk of CHD than those where no c

SUBMITTER: Sharifi M 

PROVIDER: S-EPMC6477004 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature