中国卒中杂志 ›› 2017, Vol. 12 ›› Issue (06): 559-565.DOI: 10.3969/j.issn.1673-5765.2017.06.018

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COL4A1/A2 基因变异与出血性脑血管病及梗死后出血转化研究进展

索阅,李伟,王拥军   

  1. 100050 北京首都医科大学附属北京天坛医院神经内科;国家神经系统疾病临床医学研究中心;脑血管病转化医学北京市重点实验室;北京脑重大疾病研究院脑卒中研究所
  • 收稿日期:2016-12-20 出版日期:2017-06-20 发布日期:2017-06-20
  • 通讯作者: 王拥军 yongjunwang1962@gmail.com
  • 基金资助:

    重大疾病的防控策略、诊疗规范及效果评价研究(2015BAI12B00)

Research Progress of COL4A1/A2 Mutations in Hemorrhagic Cerebral Vascular Disease and Hemorrhagic Transformation

  • Received:2016-12-20 Online:2017-06-20 Published:2017-06-20

摘要:

4型胶原作为基底膜的重要组成部分,与脑出血过程中血脑屏障的破坏相关,是许多出血 性脑血管病动物实验中血脑屏障破坏的观测指标之一。随着基因测序及分析技术的发展,借助全 基因组关联分析等策略的临床研究发现,COL4A1/A2基因的变异不仅与一些单基因遗传综合征相关, 也与散发性出血性脑血管病相关。研究COL4A1/A2变异与脑出血、蛛网膜下腔出血、梗死后出血转化 为代表的散发性出血性脑血管病相关性,对于出血性脑血管病的发病机制、高危人群筛查、早期干 预、治疗新思路是有益的。

文章导读: 家系研究、动物实验、人群散发出血性脑血管病研究证实COL4A1/A2 基因的变异与反复脑出血、深部脑出血表型相关。总结目前COL4A1/A2变异与出血性脑血管病相关性的现状对于理解出血性脑血管病发病机制,寻找新的更具针对性的治疗方法有重要意义。

关键词: 出血性脑血管病; COL4A1/A2基因; 散发性脑血管病; 脑出血; 蛛网膜下腔出血

Abstract:

Collagen IV, as a major constituent of all kinds of basement membrane, the defection of which, is associated with the collapse of the blood-brain-barrier (BBB), and also one of the markers to detect the collapse of the BBB in model animals of hemorrhagic cerebral vascular disease. With the help of fast-developing sequencing and analyzing techniques and strategies, such as Genome-wide association study, scientists have revealed the relationship between COL4A1/A2 variants and mendelian diseases, as well as sporadic hemorrhagic cerebral vascular disease. The researches about COLA1/A2 variants and intracerebral hemorrhage, subarachnoid hemorrhage, hemorrhagic transformation are helpful to discover the underlying pathogenesis, screen for highrisk population, early intervening and find new treatment for hemorrhagic cerebral vascular disease.

Key words: Hemorrhagic cerebral vascular disease; COL4A1/A2 ; Sporadic cerebral vascular disease; Intra-cerebral hemorrhage; Subarachnoid hemorrhage