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Variants of Lipolysis-Related Genes in Korean Patients with Very High Triglycerides

 Chan Joo Lee  ;  Chi Yoon Oum  ;  Yunbeom Lee  ;  Sungha Park  ;  Seok Min Kang  ;  Donghoon Choi  ;  Yangsoo Jang  ;  Ji Hyun Lee  ;  Sang Hak Lee 
 YONSEI MEDICAL JOURNAL, Vol.59(1) : 148-153, 2018 
Journal Title
Issue Date
Apolipoprotein A-V ; Asian Continental Ancestry Group/*genetics ; Female ; Genetic Association Studies ; *Genetic Variation ; Heterozygote ; Humans ; Lipolysis/*genetics ; Male ; Middle Aged ; Triglycerides/*blood
human APOA5 protein ; human GPIHBP1 protein ; High-Throughput Nucleotide Sequencing ; human LMF1 protein ; human LPL protein
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.
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1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
Yonsei Authors
Kang, Seok Min(강석민) ORCID logo https://orcid.org/0000-0001-9856-9227
Park, Sung Ha(박성하) ORCID logo https://orcid.org/0000-0001-5362-478X
Lee, Sang Hak(이상학) ORCID logo https://orcid.org/0000-0002-4535-3745
Jang, Yang Soo(장양수) ORCID logo https://orcid.org/0000-0002-2169-3112
Choi, Dong Hoon(최동훈) ORCID logo https://orcid.org/0000-0002-2009-9760
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