关键词: 血管生成素样蛋白8, 高三酰甘油血症, 二代测序, 基因变异

Abstract: Objective To screen new mutations of ANGPTL8 gene in severe hypertriglyceridemia population. Methods We designed a capture array encompassing all coding regions of the target genes for next-generation sequencing (NGS) in a cohort of 43 unrelated patients with severe hypertriglyceridemia. Exclude known TG related gene mutations, the ANGPTL8 mutation was screened and the Sanger sequencing was performed. In combination with functional prediction and conservatism analysis, the pathogenic mutation was finally screened. Results After bioinformatics analysis, 1 new ANGPTL8 variants were identified in 43 patients with severe hypertriglyceridemia. Conclusions ANGPTL8 mutation screening for severe hypertriglyceridemia in this study, and 1 new rare variant were found.

Key words: ANGPTL8, Hypertriglyceridemia, next generation sequencing, gene mutation