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

Authors
 Manjae Kwon ; Soo Min Han ; Ji Hyun Leem ; Sang-Hak Lee ; Yangsoo Jang ; Jin-Ok Jeong ; Seung-Ho Hur ; Jeongtaek Woo ; Byung Ryul Cho ; Young Keun Ahn ; Byoung-Kwon Lee ; Moo-Yong Rhee ; Do-Il Kim 
Citation
 Atherosclerosis, Vol.242(1) : 8~12, 2015 
Journal Title
 Atherosclerosis 
ISSN
 0021-9150 
Issue Date
2015
Abstract
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 Asians. METHODS: We gathered data from 66 mutation-negative and 31 mutation-positive Korean FH patients, as well as from 2274 controls who participated in the Korean Health Examinee (HEXA) shared control study. We genotyped the patients for six GLGC SNPs and four East Asian LDL-C-associated SNPs and compared SNP scores among patient groups and controls. RESULTS: Weighted mean 6- and 4-SNP scores (0.67 [SD = 0.07] and 0.46 [0.11], respectively) were both significantly associated with LDL-C levels in controls (p = 2.1 × 10(-4), R(2) = 0.01 and p = 5.0 × 10(-12), R(2) = 0.02, respectively). Mutation-negative FH patients had higher 6-SNP (0.72 [0.07]) and 4-SNP (0.49 [0.08]) scores than controls (p = 1.8 × 10(-8) and p = 3.6 × 10(-3), respectively). We also observed higher scores in mutation-positive FH patients compared with controls, but the difference did not reach statistical significance. CONCLUSION: The present study demonstrates the utility of SNP score analysis for identifying polygenic FH in Korean patients by showing that small-effect common SNPs may cumulatively elevate LDL-C levels.
URI
http://ir.ymlib.yonsei.ac.kr/handle/22282913/140539
DOI
10.1016/j.atherosclerosis.2015.06.053
Appears in Collections:
1. 연구논문 > 1. College of Medicine > Dept. of Pharmacology
1. 연구논문 > 1. College of Medicine > Dept. of Internal Medicine
1. 연구논문 > 2. College of Dentistry > Dept. of Oral Biology
Yonsei Authors
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Link
 http://www.sciencedirect.com/science/article/pii/S0021915015300095
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