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

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Author(s)
Manjae KwonSoo Min HanDo-Il KimMoo-Yong RheeByoung-Kwon LeeYoung Keun AhnByung Ryul ChoJeongtaek WooSeung-Ho HurJin-Ok JeongYangsoo JangSang-Hak LeeJi Hyun Lee
Keimyung Author(s)
Hur, Seung Ho
Department
Dept. of Internal Medicine (내과학)
Journal Title
Atherosclerosis
Issued Date
2015
Volume
242
Issue
1
Keyword
Familial hypercholesterolemiaSingle nucleotide polymorphismsLDL-C scorePolygenic
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 ¼ 0.07] and 0.46 [0.11], respectively) were both
significantly associated with LDL-C levels in controls (p ¼ 2.1 10 4, R2 ¼ 0.01 and p ¼ 5.0 10 12,
R2 ¼ 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 ¼ 1.8 10 8 and p ¼ 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.
Keimyung Author(s)(Kor)
허승호
Publisher
School of Medicine
Citation
Manjae Kwon et al. (2015). Evaluation of polygenic cause in Korean patients with familial hypercholesterolemia - A study supported by Korean Society of Lipidology and Atherosclerosis. Atherosclerosis, 242(1), 8–12. doi: 10.1016/j.atherosclerosis.2015.06.053
Type
Article
ISSN
0021-9150
Source
https://www.sciencedirect.com/science/article/pii/S0021915015300095?via%3Dihub
DOI
10.1016/j.atherosclerosis.2015.06.053
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/32965
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Internal Medicine (내과학)
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