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Article

Regional distribution and metabolic effect of PCSK9 insLEU and R46L gene mutations and apoE genotype.

The Canadian journal of cardiology - 1 Aug 2013

Awan Zuhier, Delvin Edgard E, Levy Emile, Genest Jacques, Davignon Jean, Seidah Nabil G, Baass Alexis

Abstract excerpt

BACKGROUND: Natural loss-of-function mutations in the proprotein convertase subtilisin/kexin type-9 gene (PCSK9) are associated with lower cholesterol and cardiovascular risk. Because a founder effect exists in French Canadians for many lipid-related genes, we sought to investigate PCSK9 mutations and associated variables in this population. We also investigated the combined effect of PCSK9 mutations and the...

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Source

Identifiers

PMID: 23743349
DOI: 10.1016/j.cjca.2013.03.004

Genes

PCSK9

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Regional distribution and metabolic effect of PCSK9 insLEU and R46L gene mutations and apoE genotype.PMID 23743349Read ↗

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The loss-of-function PCSK9 p.R46L genetic variant does not alter glucose homeostasis.Semantic proximity Read ↗

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PCSK9 R46L, Lower LDL, and Cardiovascular Disease Risk in Familial HypercholesterolemiaSemantic proximity Read ↗

Effect of the PCSK9 R46L genetic variant on plasma insulin and glucose levels, risk of diabetes mellitus and cardiovascular disease: A meta-analysis.Semantic proximity Read ↗

Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.Semantic proximity Read ↗

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