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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  ;  Do-Il Kim  ;  Moo-Yong Rhee  ;  Byoung-Kwon Lee  ;  Young Keun Ahn  ;  Byung Ryul Cho  ;  Jeongtaek Woo  ;  Seung-Ho Hur  ;  Jin-Ok Jeong  ;  Yangsoo Jang  ;  Sang-Hak Lee  ;  Ji Hyun Leem 
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
https://ir.ymlib.yonsei.ac.kr/handle/22282913/140539
Full Text
http://www.sciencedirect.com/science/article/pii/S0021915015300095
DOI
10.1016/j.atherosclerosis.2015.06.053
Appears in Collections:
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실)
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실)
1. Journal Papers (연구논문) > 2. College of Dentistry (치과대학) > Dept. of Oral Biology (구강생물학교실)
Yonsei Authors
이병권(Lee, Byoung Kwon)
이상학(Lee, Sang Hak) ORCID logo https://orcid.org/0000-0002-4535-3745
이지현(Lee, Ji Hyun)
장양수(Jang, Yang Soo)
한수민(Han, Soo Min)
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