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Article

Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.

European journal of human genetics : EJHG - 1 Feb 2016

Brænne Ingrid, Kleinecke Mariana, Reiz Benedikt, Graf Elisabeth, Strom Tim, Wieland Thomas, Fischer Marcus, Kessler Thorsten, Hengstenberg Christian, Meitinger Thomas, Erdmann Jeanette, Schunkert Heribert

Abstract excerpt

Familial hypercholesterolemia (FH) is an oligogenic disorder characterized by markedly elevated low-density lipoprotein cholesterol (LDLC) levels. Variants in four genes have been reported to cause the classical autosomal-dominant form of the disease. FH is largely under-diagnosed in European countries. As FH increases the risk for coronary artery disease (CAD) and myocardial infarction (MI), it might be...

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Share to Cholesterol, LDL
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 26036859
DOI: 10.1038/ejhg.2015.100
PMCID: PMC4717192

Genes

CAD
LDLR
PCSK9
STAP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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