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Article

Using human genetics to discover new therapeutic targets for plasma lipids.

Journal of internal medicine - 1 Nov 2016

Cohen J C

Abstract excerpt

Genetic variation arises through multiple different alleles that vary in frequency and severity of effect. Mutations that give rise to Mendelian disorders, such as the LDL receptor (LDLR) mutations that result in familial hypercholesterolaemia, are efficiently winnowed from the population by purifying selection and are almost inevitably rare. Conversely, alleles that are common in the population (such that...

Read the complete abstract on PubMed

Topics

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Share to Cholesterol, HDL
Share to Cholesterol, LDL
Share to Coronary Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to APOC3 gene

Share to Genetic Therapy

Share to Hyperlipoproteinemia Type II

Share to Mutation

Share to Proprotein Convertase 9

Source

Identifiers

PMID: 27739219
DOI: 10.1111/joim.12521

Genes

PCSK9
ANGPTL3
APOC3
LDLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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