Yonsei Med J.  2018 Jan;59(1):148-153. 10.3349/ymj.2018.59.1.148.

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

• Lee CJ
• Oum CY
• Lee Y
• Park S
• Kang SM
• Choi D
• Jang Y
• Lee JH
• Lee SH

• KMID: 2418862
• DOI: http://doi.org/10.3349/ymj.2018.59.1.148

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.

Keyword

LPL protein, human; GPIHBP1 protein, human; APOA5 protein, human; LMF1 protein, human; High-Throughput Nucleotide Sequencing

MeSH Terms

Apolipoprotein A-V
Asian Continental Ancestry Group/*genetics
Female
Genetic Association Studies
*Genetic Variation
Heterozygote
Humans
Lipolysis/*genetics
Male
Middle Aged
Triglycerides/*blood
Apolipoprotein A-V
Triglycerides

Figure

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  Fig. 1 Proportion of carriers who have variants of each gene identified in the study population.

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