Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 최보율 | - |
dc.date.accessioned | 2017-03-21T01:25:27Z | - |
dc.date.available | 2017-03-21T01:25:27Z | - |
dc.date.issued | 2015-07 | - |
dc.identifier.citation | JOURNAL OF HUMAN GENETICS, v. 60, no. 3, Page. 113-118 | en_US |
dc.identifier.issn | 1434-5161 | - |
dc.identifier.issn | 1435-232X | - |
dc.identifier.uri | http://www.nature.com/jhg/journal/v60/n3/abs/jhg2014108a.html | - |
dc.identifier.uri | http://hdl.handle.net/20.500.11754/26231 | - |
dc.description.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. | en_US |
dc.description.sponsorship | The genotypes and epidemiological traits were provided with biospecimens and data from Korean Genome Analysis Project (4845-301), the Korean Genome and Epidemiology Study (4851-302) and the Korean Biobank Project (4851-307, KBP-2013-000), which were supported by the Center for Disease Control and Prevention, Republic of Korea. | en_US |
dc.language.iso | en | en_US |
dc.publisher | NATURE PUBLISHING GROUP | en_US |
dc.subject | SINGLE-NUCLEOTIDE POLYMORPHISMS | en_US |
dc.subject | SYSTEMIC-LUPUS-ERYTHEMATOSUS | en_US |
dc.subject | GENOME-WIDE ASSOCIATION | en_US |
dc.subject | BLOOD-PRESSURE | en_US |
dc.subject | DISEASE | en_US |
dc.subject | GENE | en_US |
dc.subject | MUTATIONS | en_US |
dc.subject | ALGORITHM | en_US |
dc.subject | SCLEROSIS | en_US |
dc.subject | VARIANTS | en_US |
dc.title | A nonsynonymous SNP in BANK1 is associated with serum LDL cholesterol levels in three Korean populations | en_US |
dc.type | Article | en_US |
dc.relation.volume | 60 | - |
dc.identifier.doi | 10.1038/jhg.2014.108 | - |
dc.relation.page | 113-118 | - |
dc.relation.journal | JOURNAL OF HUMAN GENETICS | - |
dc.contributor.googleauthor | Hong, Kyung-Won | - |
dc.contributor.googleauthor | Lyu, Jieun | - |
dc.contributor.googleauthor | Lee, So Hyun | - |
dc.contributor.googleauthor | Choi, Bo Youl | - |
dc.contributor.googleauthor | Kim, Sung Soo | - |
dc.contributor.googleauthor | Kim, Yeonjung | - |
dc.relation.code | 2015003712 | - |
dc.sector.campus | S | - |
dc.sector.daehak | COLLEGE OF MEDICINE[S] | - |
dc.sector.department | DEPARTMENT OF MEDICINE | - |
dc.identifier.pid | bychoi | - |
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