Genetic Architecture of Familial Hypercholesterolaemia

Overview

Journal Curr Cardiol Rep

Publisher Current Science

Specialty Cardiology & Vascular Diseases

Date 2017 Apr 14

PMID 28405938

Citations 48

Authors

Mahtab Sharifi

Marta Futema

Devaki Nair

Steve E Humphries

Affiliations

Soon will be listed here.

Abstract

Purpose Of Review: Familial hypercholesterolaemia (FH) is an inherited disorder of low-density lipoprotein cholesterol (LDL-C) which is characterised by a raised cholesterol level from birth and a high risk of premature coronary heart disease. In this paper, we review the genetic basis of FH and its impact on the clinical presentation.

Recent Findings: Mutations in any of three genes (LDLR, APOB and PCSK9) are known to cause autosomal dominant FH, but a mutation can be found in only ∼40% of patients with a clinical diagnosis of FH. In the remainder, a polygenic aetiology is most likely, due to the co-inheritance of common LDL-C-raising variants. The cardiovascular presentation and management of FH will differ between patients based on their underlying genetic factors. New genotyping methods such as next-generation sequencing will provide us with better understanding of the genetic architecture of FH.

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