Cited 20 times in
Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 박성하 | - |
dc.contributor.author | 이민구 | - |
dc.contributor.author | 이병권 | - |
dc.contributor.author | 이상학 | - |
dc.contributor.author | 이지현 | - |
dc.contributor.author | 장양수 | - |
dc.contributor.author | 한수민 | - |
dc.date.accessioned | 2016-02-04T11:17:33Z | - |
dc.date.available | 2016-02-04T11:17:33Z | - |
dc.date.issued | 2015 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/140099 | - |
dc.description.abstract | Familial 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.statementOfResponsibility | open | - |
dc.format.extent | e0126706 | - |
dc.relation.isPartOf | PLOS ONE | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.subject.MESH | Adult | - |
dc.subject.MESH | Aged | - |
dc.subject.MESH | Apolipoproteins B/genetics | - |
dc.subject.MESH | Asian Continental Ancestry Group | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Genetic Testing/methods* | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Hypercholesterolemia/diagnosis* | - |
dc.subject.MESH | Hypercholesterolemia/genetics* | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Middle Aged | - |
dc.subject.MESH | Mutation | - |
dc.subject.MESH | Proprotein Convertase 9 | - |
dc.subject.MESH | Proprotein Convertases/genetics | - |
dc.subject.MESH | Receptors, LDL/genetics | - |
dc.subject.MESH | Serine Endopeptidases/genetics | - |
dc.title | Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Pharmacology (약리학) | - |
dc.contributor.googleauthor | Soo Min Han | - |
dc.contributor.googleauthor | Byungjin Hwang | - |
dc.contributor.googleauthor | Tae-gun Park | - |
dc.contributor.googleauthor | Do-Il Kim | - |
dc.contributor.googleauthor | Moo-Yong Rhee | - |
dc.contributor.googleauthor | Byoung-Kwon Lee | - |
dc.contributor.googleauthor | Young Keun Ahn | - |
dc.contributor.googleauthor | Byung Ryul Cho | - |
dc.contributor.googleauthor | Jeongtaek Woo | - |
dc.contributor.googleauthor | Seung-Ho Hur | - |
dc.contributor.googleauthor | Jin-Ok Jeong | - |
dc.contributor.googleauthor | Sungha Park | - |
dc.contributor.googleauthor | Yangsoo Jang | - |
dc.contributor.googleauthor | Min Goo Lee | - |
dc.contributor.googleauthor | Duhee Bang | - |
dc.contributor.googleauthor | Ji Hyun Lee | - |
dc.contributor.googleauthor | Sang-Hak Lee | - |
dc.identifier.doi | 10.1371/journal.pone.0126706 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A01512 | - |
dc.contributor.localId | A02781 | - |
dc.contributor.localId | A02793 | - |
dc.contributor.localId | A03448 | - |
dc.contributor.localId | A04292 | - |
dc.contributor.localId | A03214 | - |
dc.contributor.localId | A02833 | - |
dc.relation.journalcode | J02540 | - |
dc.identifier.eissn | 1932-6203 | - |
dc.identifier.pmid | 25962062 | - |
dc.contributor.alternativeName | Park, Sung Ha | - |
dc.contributor.alternativeName | Lee, Min Goo | - |
dc.contributor.alternativeName | Lee, Byoung Kwon | - |
dc.contributor.alternativeName | Lee, Sang Hak | - |
dc.contributor.alternativeName | Lee, Ji Hyun | - |
dc.contributor.alternativeName | Jang, Yang Soo | - |
dc.contributor.alternativeName | Han, Soo Min | - |
dc.contributor.affiliatedAuthor | Park, Sung Ha | - |
dc.contributor.affiliatedAuthor | Lee, Min Goo | - |
dc.contributor.affiliatedAuthor | Lee, Byoung Kwon | - |
dc.contributor.affiliatedAuthor | Jang, Yang Soo | - |
dc.contributor.affiliatedAuthor | Han, Soo Min | - |
dc.contributor.affiliatedAuthor | Lee, Ji Hyun | - |
dc.contributor.affiliatedAuthor | Lee, Snag Hak | - |
dc.rights.accessRights | free | - |
dc.citation.volume | 10 | - |
dc.citation.number | 5 | - |
dc.citation.startPage | e0126706 | - |
dc.identifier.bibliographicCitation | PLOS ONE, Vol.10(5) : e0126706, 2015 | - |
dc.identifier.rimsid | 45626 | - |
dc.type.rims | ART | - |
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