Cited 10 times in
Variants of Lipolysis-Related Genes in Korean Patients with Very High Triglycerides
DC Field | Value | Language |
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dc.contributor.author | 강석민 | - |
dc.contributor.author | 박성하 | - |
dc.contributor.author | 이상학 | - |
dc.contributor.author | 장양수 | - |
dc.contributor.author | 최동훈 | - |
dc.date.accessioned | 2018-08-28T16:40:50Z | - |
dc.date.available | 2018-08-28T16:40:50Z | - |
dc.date.issued | 2018 | - |
dc.identifier.issn | 0513-5796 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/161834 | - |
dc.description.abstract | We investigated the prevalence and characteristics of variants of five lipolysis-related genes in Korean patients with very high triglycerides (TGs). Twenty-six patients with TG levels >885 mg/dL were selected from 13545 Korean subjects. Five candidate genes, LPL, APOC2, GPIHBP1, APOA5, and LMF1, were sequenced by targeted next-generation sequencing. Predictions of functional effects were performed and matched against public databases of variants. Ten rare variants of three genes were found in nine (34.6%) patients (three in LPL, four in APOA5, and three in LMF1). Five were novel and all variants were suspected of being disease-causing. Nine were heterozygous, and one (3.8%) had a homozygous rare variant of LPL. Six common variants of four genes were observed in 25 (96.2%) patients (one in LPL, one in GPIHBP1, two in APOA5, and two in LMF1). The c.G41T variant of GPIHBP1 and c.G533T variant of APOA5 were most frequent and found in 15 (57.7%) and 14 (53.8%) patients, respectively. Rare homozygous variants of the genes were very uncommon, while diverse rare heterozygous variants were commonly identified. Taken together, most study subjects may be manifesting the combined effects of rare heterozygous variants and common variants. | - |
dc.description.statementOfResponsibility | open | - |
dc.language | English | - |
dc.publisher | Yonsei University | - |
dc.relation.isPartOf | YONSEI MEDICAL JOURNAL | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.subject.MESH | Apolipoprotein A-V | - |
dc.subject.MESH | Asian Continental Ancestry Group/*genetics | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Genetic Association Studies | - |
dc.subject.MESH | *Genetic Variation | - |
dc.subject.MESH | Heterozygote | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Lipolysis/*genetics | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Middle Aged | - |
dc.subject.MESH | Triglycerides/*blood | - |
dc.title | Variants of Lipolysis-Related Genes in Korean Patients with Very High Triglycerides | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine | - |
dc.contributor.department | Dept. of Internal Medicine | - |
dc.contributor.googleauthor | Chan Joo Lee | - |
dc.contributor.googleauthor | Chi Yoon Oum | - |
dc.contributor.googleauthor | Yunbeom Lee | - |
dc.contributor.googleauthor | Sungha Park | - |
dc.contributor.googleauthor | Seok Min Kang | - |
dc.contributor.googleauthor | Donghoon Choi | - |
dc.contributor.googleauthor | Yangsoo Jang | - |
dc.contributor.googleauthor | Ji Hyun Lee | - |
dc.contributor.googleauthor | Sang Hak Lee | - |
dc.identifier.doi | 10.3349/ymj.2018.59.1.148 | - |
dc.contributor.localId | A00037 | - |
dc.contributor.localId | A01512 | - |
dc.contributor.localId | A02833 | - |
dc.contributor.localId | A03448 | - |
dc.contributor.localId | A04053 | - |
dc.relation.journalcode | J02813 | - |
dc.identifier.eissn | 1976-2437 | - |
dc.identifier.pmid | 29214790 | - |
dc.subject.keyword | human APOA5 protein | - |
dc.subject.keyword | human GPIHBP1 protein | - |
dc.subject.keyword | High-Throughput Nucleotide Sequencing | - |
dc.subject.keyword | human LMF1 protein | - |
dc.subject.keyword | human LPL protein | - |
dc.contributor.alternativeName | Kang, Seok Min | - |
dc.contributor.alternativeName | Park, Sung Ha | - |
dc.contributor.alternativeName | Lee, Snag Hak | - |
dc.contributor.alternativeName | Jang, Yang Soo | - |
dc.contributor.alternativeName | Choi, Dong Hoon | - |
dc.contributor.affiliatedAuthor | Kang, Seok Min | - |
dc.contributor.affiliatedAuthor | Park, Sung Ha | - |
dc.contributor.affiliatedAuthor | Lee, Snag Hak | - |
dc.contributor.affiliatedAuthor | Jang, Yang Soo | - |
dc.contributor.affiliatedAuthor | Choi, Dong Hoon | - |
dc.citation.volume | 59 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 148 | - |
dc.citation.endPage | 153 | - |
dc.identifier.bibliographicCitation | YONSEI MEDICAL JOURNAL, Vol.59(1) : 148-153, 2018 | - |
dc.identifier.rimsid | 59426 | - |
dc.type.rims | ART | - |
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