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CETP, LIPC, and SCARB1 variants in individuals with extremely high high-density lipoprotein-cholesterol levels

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dc.contributor.author강석민-
dc.contributor.author박성하-
dc.contributor.author이상학-
dc.contributor.author이찬주-
dc.contributor.author장양수-
dc.contributor.author안수진-
dc.date.accessioned2019-09-20T07:52:12Z-
dc.date.available2019-09-20T07:52:12Z-
dc.date.issued2019-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/171093-
dc.description.abstractThe concentration of high-density lipoprotein-cholesterol (HDL-C) in humans is partially determined by genetic factors; however, the role of these factors is incompletely understood. The aim of this study was to examine the prevalence and characteristics of CETP, LIPC, and SCARB1 variants in Korean individuals with extremely high HDL-C levels. We also analysed associations between these variants and cholesterol efflux capacity (CEC), reactive oxygen species (ROS) generation, and vascular cell adhesion molecule-1 (VCAM-1) expression. Of 13,545 participants in the cardiovascular genome cohort, 42 subjects with HDL-C levels >100 mg/dL were analysed. The three target genes were sequenced by targeted next-generation sequencing, the functional effects of detected variants were predicted, and CEC was assessed using a radioisotope and apolipoprotein B-depleted sera. We observed two rare variants of CETP in 13 individuals (rare variant c.A1196G [p.D399G] of CETP was discovered in 12 subjects) and one rare variant of SCARB1 in one individual. Furthermore, all subjects had at least one of four common variants (one CETP and three LIPC variants). Two additional novel CETP variants of unknown frequency were found in two subjects. However, the identified variants did not show significant associations with CEC, ROS generation, or VCAM-1 expression. Our study provides additional insights into the role of genetics in individuals with extremely high HDL-C.-
dc.description.statementOfResponsibilityopen-
dc.formatapplication/pdf-
dc.languageEnglish-
dc.publisherNature Publishing Group-
dc.relation.isPartOfScientific Reports-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.titleCETP, LIPC, and SCARB1 variants in individuals with extremely high high-density lipoprotein-cholesterol levels-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Internal Medicine (내과학교실)-
dc.contributor.googleauthorChan Joo Lee-
dc.contributor.googleauthorMun Su Park-
dc.contributor.googleauthorMiso Kim-
dc.contributor.googleauthorSoo-jin Ann-
dc.contributor.googleauthorJaeho Lee-
dc.contributor.googleauthorSungha Park-
dc.contributor.googleauthorSeok-Min Kang-
dc.contributor.googleauthorYangsoo Jang-
dc.contributor.googleauthorJi Hyun Lee-
dc.contributor.googleauthorSang-Hak Lee-
dc.identifier.doi10.1038/s41598-019-47456-2-
dc.contributor.localIdA00037-
dc.contributor.localIdA01512-
dc.contributor.localIdA02833-
dc.contributor.localIdA03238-
dc.contributor.localIdA03448-
dc.relation.journalcodeJ02646-
dc.identifier.eissn2045-2322-
dc.identifier.pmid31358896-
dc.contributor.alternativeNameKang, Seok Min-
dc.contributor.affiliatedAuthor강석민-
dc.contributor.affiliatedAuthor박성하-
dc.contributor.affiliatedAuthor이상학-
dc.contributor.affiliatedAuthor이찬주-
dc.contributor.affiliatedAuthor장양수-
dc.citation.volume9-
dc.citation.number1-
dc.citation.startPage10915-
dc.identifier.bibliographicCitationScientific Reports, Vol.9(1) : 10915, 2019-
dc.identifier.rimsid64029-
dc.type.rimsART-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers

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