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Rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol levels.

DC Field Value Language
dc.contributor.author강석민-
dc.contributor.author박성하-
dc.contributor.author이상학-
dc.contributor.author장양수-
dc.date.accessioned2018-07-20T08:17:29Z-
dc.date.available2018-07-20T08:17:29Z-
dc.date.issued2017-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/161051-
dc.description.abstractBACKGROUND: Screening of variants, related to lipid metabolism in patients with extreme cholesterol levels, is a tool used to identify targets affecting cardiovascular outcomes. The aim of this study was to examine the prevalence and characteristics of rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol (LDL-C) levels. METHODS: Among 13,545 participants enrolled in a cardiovascular genome cohort, 22 subjects, whose LDL-C levels without lipid-lowering agents were ≤1 percentile (48 mg/dL) of Korean population, were analyzed. Two target genes, APOB and PCSK9, were sequenced by targeted next-generation sequencing. Prediction of functional effects was conducted using SIFT, PolyPhen-2, and Mutation Taster, and matched against a public database of variants. RESULTS: Eight rare variants of the two candidate genes (five in APOB and three in PCSK9) were found in nine subjects. Two subjects had more than two different rare variants of either gene (one subject in APOB and another subject in APOB/PCSK9). Conversely, 12 common variants (nine in APOB and three in PCSK9) were discovered in 21 subjects. Among all variants, six in APOB and three in PCSK9 were novel. Several variants previously reported functional, including c.C277T (p.R93C) and c.G2009A (p.G670E) of PCSK9, were found in our population. CONCLUSIONS: Rare variants of APOB or PCSK9 were identified in nine of the 22 study patients with extremely low LDL-C levels, whereas most of them had common variants of the two genes. The common novelty of variants suggested polymorphism of the two genes among them. Our results provide rare genetic information associated with this lipid phenotype in East Asian people.-
dc.description.statementOfResponsibilityopen-
dc.languageEnglish-
dc.publisherPublic Library of Science-
dc.relation.isPartOfPLOS ONE-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rightshttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHApolipoprotein B-100/genetics-
dc.subject.MESHCholesterol, LDL/blood-
dc.subject.MESHCohort Studies-
dc.subject.MESHFemale-
dc.subject.MESHGenetic Variation-
dc.subject.MESHGenotype-
dc.subject.MESHHumans-
dc.subject.MESHHypobetalipoproteinemias/blood-
dc.subject.MESHHypobetalipoproteinemias/genetics-
dc.subject.MESHMale-
dc.subject.MESHMiddle Aged-
dc.subject.MESHPhenotype-
dc.subject.MESHPolymorphism, Single Nucleotide-
dc.subject.MESHProprotein Convertase 9/genetics-
dc.subject.MESHRepublic of Korea-
dc.titleRare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol levels.-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine-
dc.contributor.departmentDept. of Internal Medicine-
dc.contributor.googleauthorChan Joo Lee-
dc.contributor.googleauthorYunbeom 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.doi10.1371/journal.pone.0186446-
dc.contributor.localIdA00037-
dc.contributor.localIdA01512-
dc.contributor.localIdA02833-
dc.contributor.localIdA03448-
dc.relation.journalcodeJ02540-
dc.identifier.eissn1932-6203-
dc.identifier.pmid29036232-
dc.contributor.alternativeNameKang, Seok Min-
dc.contributor.alternativeNamePark, Sung Ha-
dc.contributor.alternativeNameLee, Snag Hak-
dc.contributor.alternativeNameJang, Yang Soo-
dc.contributor.affiliatedAuthorKang, Seok Min-
dc.contributor.affiliatedAuthorPark, Sung Ha-
dc.contributor.affiliatedAuthorLee, Snag Hak-
dc.contributor.affiliatedAuthorJang, Yang Soo-
dc.citation.volume12-
dc.citation.number10-
dc.citation.startPagee0186446-
dc.identifier.bibliographicCitationPLOS ONE, Vol.12(10) : e0186446, 2017-
dc.identifier.rimsid60942-
dc.type.rimsART-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers

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