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Article

Effect of protein convertase subtilisin/kexin type 9 (PCSK9) 46L gene polymorphism on LDL cholesterol concentration in a Polish adult population.

Molecular genetics and metabolism - 1 Jun 2008

Kostrzewa Grazyna, Broda Grazyna, Kurjata Paweł, Piotrowski Walerian, Ploski Rafal

Abstract excerpt

The purpose was to study the effect of PCSK9 46L on cholesterol concentration and cardiovascular morbidity. By comparing 176 carriers with 6618 non-carriers identified through a cross-sectional population study (WOBASZ) we confirmed the LDL lowering effect of PCSK9 46L and demonstrated that it increases with the concentration of LDL. We noted that PCSK9 46L was associated with tendency for protection from...

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Source

Identifiers

PMID: 18343176
DOI: 10.1016/j.ymgme.2008.02.003

Genes

PCSK9

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.

Related research

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Effect of protein convertase subtilisin/kexin type 9 (PCSK9) 46L gene polymorphism on LDL cholesterol concentration in a Polish adult population.PMID 18343176Read ↗

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PCSK9 R46L, low-density lipoprotein cholesterol levels, and risk of ischemic heart disease: 3 independent studies and meta-analyses.Semantic proximity Read ↗

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The PCSK9 gene R46L variant is associated with lower plasma lipid levels and cardiovascular risk in healthy U.K. men.Semantic proximity Read ↗

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Influence of PCSK9 polymorphisms on plasma lipids and response to atorvastatin treatment in Brazilian subjects.Semantic proximity Read ↗

PCSK9 R46L Loss-of-Function Mutation Reduces Lipoprotein(a), LDL Cholesterol, and Risk of Aortic Valve Stenosis.Semantic proximity Read ↗

Carriers of the PCSK9 R46L Variant Are Characterized by an Antiatherogenic Lipoprotein Profile Assessed by Nuclear Magnetic Resonance Spectroscopy-Brief Report.Semantic proximity Read ↗

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

Healthy individuals carrying the PCSK9 p.R46L variant and familial hypercholesterolemia patients carrying PCSK9 p.D374Y exhibit lower plasma concentrations of PCSK9.Semantic proximity Read ↗

Beyond LDL-C lowering: distinct molecular sphingolipids are good indicators of proprotein convertase subtilisin/kexin type 9 (PCSK9) deficiency.Semantic proximity Read ↗

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

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