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Article

Family-specific aggregation of lipid GWAS variants confers the susceptibility to familial hypercholesterolemia in a large Austrian family.

Atherosclerosis - 1 Sept 2017

Nikkola Elina, Ko Arthur, Alvarez Marcus, Cantor Rita M, Garske Kristina, Kim Elliot, Gee Stephanie, Rodriguez Alejandra, Muxel Reinhard, Matikainen Niina, Söderlund Sanni, Motazacker Mahdi M, Borén Jan, Lamina Claudia, Kronenberg Florian, Schneider Wolfgang J, Palotie Aarno, Laakso Markku, Taskinen Marja-Riitta, Pajukanta Päivi

Abstract excerpt

BACKGROUND AND AIMS: Hypercholesterolemia confers susceptibility to cardiovascular disease (CVD). Both serum total cholesterol (TC) and LDL-cholesterol (LDL-C) exhibit a strong genetic component (heritability estimates 0.41-0.50). However, a large part of this heritability cannot be explained by the variants identified in recent extensive genome-wide association studies (GWAS) on lipids. Our aim was to find...

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Source

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Identifiers

PMID: 28772107
DOI: 10.1016/j.atherosclerosis.2017.07.024
PMCID: PMC5698088

Genes

APOB
LDLR
LPA

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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