A nonsynonymous SNP in BANK1 is associated with serum LDL cholesterol levels in three Korean populations
DC Field | Value | Language |
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dc.contributor.author | Hong, Kyung-Won | - |
dc.contributor.author | Lyu, Jieun | - |
dc.contributor.author | Lee, So Hyun | - |
dc.contributor.author | Choi, Bo Youl | - |
dc.contributor.author | Kim, Sung Soo | - |
dc.contributor.author | Kim, Yeonjung | - |
dc.date.accessioned | 2022-07-15T23:59:43Z | - |
dc.date.available | 2022-07-15T23:59:43Z | - |
dc.date.created | 2021-05-12 | - |
dc.date.issued | 2015-03 | - |
dc.identifier.issn | 1434-5161 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/157784 | - |
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. | - |
dc.language | 영어 | - |
dc.language.iso | en | - |
dc.publisher | NATURE PUBLISHING GROUP | - |
dc.title | A nonsynonymous SNP in BANK1 is associated with serum LDL cholesterol levels in three Korean populations | - |
dc.type | Article | - |
dc.contributor.affiliatedAuthor | Choi, Bo Youl | - |
dc.identifier.doi | 10.1038/jhg.2014.108 | - |
dc.identifier.scopusid | 2-s2.0-84925792307 | - |
dc.identifier.wosid | 000351761200002 | - |
dc.identifier.bibliographicCitation | JOURNAL OF HUMAN GENETICS, v.60, no.3, pp.113 - 118 | - |
dc.relation.isPartOf | JOURNAL OF HUMAN GENETICS | - |
dc.citation.title | JOURNAL OF HUMAN GENETICS | - |
dc.citation.volume | 60 | - |
dc.citation.number | 3 | - |
dc.citation.startPage | 113 | - |
dc.citation.endPage | 118 | - |
dc.type.rims | ART | - |
dc.type.docType | Article | - |
dc.description.journalClass | 1 | - |
dc.description.isOpenAccess | Y | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.relation.journalResearchArea | Genetics & Heredity | - |
dc.relation.journalWebOfScienceCategory | Genetics & Heredity | - |
dc.subject.keywordPlus | SINGLE-NUCLEOTIDE POLYMORPHISMS | - |
dc.subject.keywordPlus | GENOME-WIDE ASSOCIATION | - |
dc.subject.keywordPlus | BLOOD-PRESSURE | - |
dc.subject.keywordPlus | GENE | - |
dc.subject.keywordPlus | VARIANTS | - |
dc.subject.keywordPlus | DISEASE | - |
dc.subject.keywordPlus | RISK | - |
dc.subject.keywordPlus | LOCI | - |
dc.identifier.url | https://www.nature.com/articles/jhg2014108 | - |
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