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Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing

DC Field Value Language
dc.contributor.author박성하-
dc.contributor.author이민구-
dc.contributor.author이병권-
dc.contributor.author이상학-
dc.contributor.author이지현-
dc.contributor.author장양수-
dc.contributor.author한수민-
dc.date.accessioned2016-02-04T11:17:33Z-
dc.date.available2016-02-04T11:17:33Z-
dc.date.issued2015-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/140099-
dc.description.abstractFamilial hypercholesterolemia (FH) is a genetic disorder with an increased risk of early-onset coronary artery disease. Although some clinically diagnosed FH cases are caused by mutations in LDLR, APOB, or PCSK9, mutation detection rates and profiles can vary across ethnic groups. In this study, we aimed to provide insight into the spectrum of FH-causing mutations in Koreans. Among 136 patients referred for FH, 69 who met Simon Broome criteria with definite family history were enrolled. By whole-exome sequencing (WES) analysis, we confirmed that the 3 known FH-related genes accounted for genetic causes in 23 patients (33.3%). A substantial portion of the mutations (19 of 23 patients, 82.6%) resulted from 17 mutations and 2 copy number deletions in LDLR gene. Two mutations each in the APOB and PCSK9 genes were verified. Of these anomalies, two frameshift deletions in LDLR and one mutation in PCSK9 were identified as novel causative mutations. In particular, one novel mutation and copy number deletion were validated by co-segregation in their relatives. This study confirmed the utility of genetic diagnosis of FH through WES.-
dc.description.statementOfResponsibilityopen-
dc.format.extente0126706-
dc.relation.isPartOfPLOS ONE-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAdult-
dc.subject.MESHAged-
dc.subject.MESHApolipoproteins B/genetics-
dc.subject.MESHAsian Continental Ancestry Group-
dc.subject.MESHFemale-
dc.subject.MESHGenetic Testing/methods*-
dc.subject.MESHHumans-
dc.subject.MESHHypercholesterolemia/diagnosis*-
dc.subject.MESHHypercholesterolemia/genetics*-
dc.subject.MESHMale-
dc.subject.MESHMiddle Aged-
dc.subject.MESHMutation-
dc.subject.MESHProprotein Convertase 9-
dc.subject.MESHProprotein Convertases/genetics-
dc.subject.MESHReceptors, LDL/genetics-
dc.subject.MESHSerine Endopeptidases/genetics-
dc.titleGenetic testing of Korean familial hypercholesterolemia using whole-exome sequencing-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Pharmacology (약리학)-
dc.contributor.googleauthorSoo Min Han-
dc.contributor.googleauthorByungjin Hwang-
dc.contributor.googleauthorTae-gun Park-
dc.contributor.googleauthorDo-Il Kim-
dc.contributor.googleauthorMoo-Yong Rhee-
dc.contributor.googleauthorByoung-Kwon Lee-
dc.contributor.googleauthorYoung Keun Ahn-
dc.contributor.googleauthorByung Ryul Cho-
dc.contributor.googleauthorJeongtaek Woo-
dc.contributor.googleauthorSeung-Ho Hur-
dc.contributor.googleauthorJin-Ok Jeong-
dc.contributor.googleauthorSungha Park-
dc.contributor.googleauthorYangsoo Jang-
dc.contributor.googleauthorMin Goo Lee-
dc.contributor.googleauthorDuhee Bang-
dc.contributor.googleauthorJi Hyun Lee-
dc.contributor.googleauthorSang-Hak Lee-
dc.identifier.doi10.1371/journal.pone.0126706-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA01512-
dc.contributor.localIdA02781-
dc.contributor.localIdA02793-
dc.contributor.localIdA03448-
dc.contributor.localIdA04292-
dc.contributor.localIdA03214-
dc.contributor.localIdA02833-
dc.relation.journalcodeJ02540-
dc.identifier.eissn1932-6203-
dc.identifier.pmid25962062-
dc.contributor.alternativeNamePark, Sung Ha-
dc.contributor.alternativeNameLee, Min Goo-
dc.contributor.alternativeNameLee, Byoung Kwon-
dc.contributor.alternativeNameLee, Sang Hak-
dc.contributor.alternativeNameLee, Ji Hyun-
dc.contributor.alternativeNameJang, Yang Soo-
dc.contributor.alternativeNameHan, Soo Min-
dc.contributor.affiliatedAuthorPark, Sung Ha-
dc.contributor.affiliatedAuthorLee, Min Goo-
dc.contributor.affiliatedAuthorLee, Byoung Kwon-
dc.contributor.affiliatedAuthorJang, Yang Soo-
dc.contributor.affiliatedAuthorHan, Soo Min-
dc.contributor.affiliatedAuthorLee, Ji Hyun-
dc.contributor.affiliatedAuthorLee, Snag Hak-
dc.rights.accessRightsfree-
dc.citation.volume10-
dc.citation.number5-
dc.citation.startPagee0126706-
dc.identifier.bibliographicCitationPLOS ONE, Vol.10(5) : e0126706, 2015-
dc.identifier.rimsid45626-
dc.type.rimsART-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실) > 1. Journal Papers
2. College of Dentistry (치과대학) > Dept. of Oral Biology (구강생물학교실) > 1. Journal Papers

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