青年卒中遗传学研究进展 Advances in Genetics of Stroke in Young Adults

Abstract

青年卒中的发病率呈上升趋势，发现临床前生物标志物将获益巨大。除了罕见的卒中相关单基因疾病，许多遗传易感性研究表明青年卒中是多基因遗传病。近20年来，全基因组关联分析、验证研究和meta分析研究方法被应用于青年卒中的遗传学研究。本篇综述阐述了青年卒中的遗传学证据以及相关的单基因突变和候选基因变异，为疾病诊治提供参考。 Abstract: The incidence of stroke in young adults is on the rise, and the discovery of preclinical biomarkers would be of great clinical value. In addition to rare stroke-related monogenic diseases, many studies on the genetic susceptibility have shown that stroke in young adults is of multifactorial inheritance. In the past two decades, genome wide association study (GWAS), validation studies and meta-analysis have been applied to genetics research of stroke in young adults. This article reviewed the genetics evidence, related single gene and candidate genes mutation of stroke in young adults, to provide references for the clinical diagnosis and treatment.

Keywords

• 卒中
• 青年
• 遗传学
• 全基因组关联分析
• stroke
• young adult
• genetics
• genome wide association study