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

 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 
 Atherosclerosis, Vol.242(1) : 8-12, 2015 
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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.
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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) ORCID logo https://orcid.org/0000-0001-9259-2776
이상학(Lee, Sang Hak) ORCID logo https://orcid.org/0000-0002-4535-3745
이지현(Lee, Ji Hyun)
장양수(Jang, Yang Soo) ORCID logo https://orcid.org/0000-0002-2169-3112
한수민(Han, Soo Min)
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