高甘油三酯血症遗传学研究进展
Genetics Update in Hypertriglyceridemia
近年来,基于大规模人群的的孟德尔随机化分析提示高甘油三酯(HTG)水平是动脉粥样硬化性心血管疾病的致病因素,用于HTG的治疗也被心血管病指南强烈推荐用于降低残余心血管事件风险。随着高通量测序技术发展,通过全基因组关联分析、外显子组测序、甲基化组分析和RNA测序等全新遗传学手段发现一些全新常见或稀有遗传变异,microRNA,LncRNA和DNA甲基化参与甘油三酯血症代谢的异常调控,为指导血脂疗靶点开发和控残余血管病风险管控提供了全新的理论依据。本文将对这些新的研究进展作一综述。
Recently, mendelian randomization data based on large cohort strongly suggest that hypertriglyceridemia (HTG) causes atherosclerotic cardiovascular disease , and so Triglyceride (TG) level-lowering treatment in HTG is now more strongly recommended to address the cardiovascular residual risk (CRR) than has been the case in published guidelines. With development of high-throughput?Sequencing thechonogy, Genome-wide association study (GWAS), Exome sequencing, epigenome-wide association studies(EWAS) and RNA sequencing have identified several novel common and rare variants, microRNA, LncRNA, DNA DNA methylation involving in abnormal TG clearance regulation,resulting in HTG. These research may led to innovative lipid target therapies for reducing e cardiovascular residual risk. We conduct a review to discussed the progression in this area.
丁虎、董莉萍、金元超
遗传学基础医学生物科学研究方法、生物科学研究技术
遗传高甘油三酯转录调控
geneticshypertriglyceridemiatranscript regulation
丁虎,董莉萍,金元超.高甘油三酯血症遗传学研究进展[EB/OL].(2016-06-12)[2025-08-18].http://www.paper.edu.cn/releasepaper/content/201606-611.点此复制
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