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Evaluation of polygenic cause in Korean patients with familial hypercholesterolemia - A study supported by Korean Society of Lipidology and Atherosclerosis.

Atherosclerosis - 1 Sept 2015

Kwon Manjae, Han Soo Min, Kim Do-Il, Rhee Moo-Yong, Lee Byoung-Kwon, Ahn Young Keun, Cho Byung Ryul, Woo Jeongtaek, Hur Seung-Ho, Jeong Jin-Ok, Jang Yangsoo, Lee Sang-Hak, Lee Ji Hyun

Abstract excerpt

BACKGROUND/OBJECTIVE: Familial hypercholesterolemia (FH) is an autosomal dominant disorder caused by mutations in LDLR, APOB, or PCSK9. Polygenicity is a plausible cause in mutation-negative FH patients based on LDL cholesterol (LDL-C)-associated single nucleotide polymorphisms (SNPs) identified by the Global Lipids Genetics Consortium (GLGC). However, there are limited data regarding the polygenic cause of FH in...

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Share to Apolipoprotein B-100
Share to Cholesterol, HDL

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cholesterol, LDL

Share to Hyperlipoproteinemia Type II

Share to Proprotein Convertase 9

Share to Proprotein Convertases

Share to Receptors, LDL

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Source

Identifiers

PMID: 26160041
DOI: 10.1016/j.atherosclerosis.2015.06.053

Genes

APOB
HEXA
LDLR
PCSK9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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