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Open Access 01-06-2019 | Coronary Heart Disease | Lipid Abnormalities and Cardiovascular Prevention (G De Backer, Section Editor)

Polygenic Hypercholesterolemia and Cardiovascular Disease Risk

Authors: Mahtab Sharifi, Marta Futema, Devaki Nair, Steve E. Humphries

Published in: Current Cardiology Reports | Issue 6/2019

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.

Summary

Individuals with a clinical phenotype of FH and a monogenic cause are at greater risk of CHD than those where no causative mutation can be found. The patients with polygenic hypercholesterolemia would not require elaborate cascade screening or secondary care input for their management.

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Title: Polygenic Hypercholesterolemia and Cardiovascular Disease Risk
Authors: Mahtab Sharifi
Marta Futema
Devaki Nair
Steve E. Humphries
Publication date: 01-06-2019
Publisher: Springer US
Keywords: Coronary Heart Disease
Hypercholesterolemia
Published in: Current Cardiology Reports / Issue 6/2019
Print ISSN: 1523-3782
Electronic ISSN: 1534-3170
DOI: https://doi.org/10.1007/s11886-019-1130-z

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