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A nonsynonymous SNP in BANK1 is associated with serum LDL cholesterol levels in three Korean populations

Title
A nonsynonymous SNP in BANK1 is associated with serum LDL cholesterol levels in three Korean populations
Author
최보율
Keywords
SINGLE-NUCLEOTIDE POLYMORPHISMS; SYSTEMIC-LUPUS-ERYTHEMATOSUS; GENOME-WIDE ASSOCIATION; BLOOD-PRESSURE; DISEASE; GENE; MUTATIONS; ALGORITHM; SCLEROSIS; VARIANTS
Issue Date
2015-07
Publisher
NATURE PUBLISHING GROUP
Citation
JOURNAL OF HUMAN GENETICS, v. 60, no. 3, Page. 113-118
Abstract
Serum levels of lipids, such as cholesterol and triglycerides, are heritable risk factors for cardiovascular disease and targets for therapeutic intervention. Because previous genome-wide association studies (GWASs) did not target functional genetic variants, we employed an alternate approach using nonsynonymous single-nucleotide polymorphisms (SNPs) to identify functional genetic variants associated with the regulation of serum lipid levels. We selected 3667 healthy individuals from a rural community-based cohort (CAVAS; Cardio Vascular disease Association Study) of the Korean Genome and Epidemiology Study project. We analyzed demographic and lifestyle information, lipid measurements and genotypes using the Illumina-1M SNP chip. For genotyping, we isolated 11 558 nonsynonymous SNPs and conducted a linear regression analysis with four lipid traits (total, high-density lipoprotein (HDL) and low-density lipoprotein (LDL) cholesterols and triglycerides). Significantly associated SNPs were validated in two independent Korean populations, Korean Association Resource (KARE) (n = 4116) and Health Examinee (HEXA) (n = 2178). Of the 11 558 SNPs, one SNP (rs3733197) from the CAVAS was significantly associated with serum LDL cholesterols (beta +/- s.e. = 4.67 +/- 0.94, P-value = 1.0 x 10(-6) and Bonferroni corrected P-value = 0.012). The replication results of HEXA and KARE were beta +/- s.e. = 2.88 +/- 1.12, P-value = 0.016 and beta +/- s.e. = 1.26 +/- 0.97, P-value = 0.196, respectively. An overall meta-analysis of the three data sets revealed beta = 2.98 +/- 0.57, P-value = 6.19 x 10(-7). The rs3733197 is located in the coding region of BANK1 (B-cell scaffold protein with ankyrin repeats 1), and the minor allele (A) resulted in the replacement of the Alanine at position 383 with Threonine.
URI
http://www.nature.com/jhg/journal/v60/n3/abs/jhg2014108a.htmlhttp://hdl.handle.net/20.500.11754/26231
ISSN
1434-5161; 1435-232X
DOI
10.1038/jhg.2014.108
Appears in Collections:
COLLEGE OF MEDICINE[S](의과대학) > MEDICINE(의학과) > Articles
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