nature

当前位置: Nature » 基因&基因组学 » 正文

Nature子刊:特殊基因可降低中风风险

标签:基因 中风
摘要 : 来自伦敦大学等处的研究人员近日通过研究发现了一种新型基因,其可以保护年轻人和中年人有效抵御中风的发生,相关研究刊登于国际杂志Nature Genetics上,或为开发新型疗法提供一定的线索。

 

来自伦敦大学等处的研究人员近日通过研究发现了一种新型基因,其可以保护年轻人和中年人有效抵御中风的发生,相关研究刊登于国际杂志Nature Genetics上,或为开发新型疗法提供一定的线索。

文章中,研究者表示,携带特殊基因PHACTR1的突变体的个体或遭受颈动脉夹层(cervical artery dissection,CAD)的风险较低,颈动脉夹层是颈动脉血流通过破损的血管内膜进入血管壁,形成壁内血肿,造成内膜与内膜下结构分离,导致血管狭窄、闭塞。研究结果或为开发抑制年轻个体中风的疗法提供一定的帮助。

Pankaj Sharma教授说道,鉴别出的PHACTR1基因突变体或可作为一种保护器可以用来抵御个体的偏头痛及影响个体患心脏病的风险。我们的研究为揭示基因组区域如何影响关键的血管功能提供了一定的线索。在这项研究中研究人员对患CAD的1400名个体的全基因组进行了筛查分析,同时以14400名未患CAD的个体作为对照进行研究。

未来通过进行一定的遗传学分析及全球合作或为理解隐藏在中风背后的分子机制提供一定的线索,而对中风研究所建立的DNA生物样本储存库或许也为寻找和中风发病直接相关的基因提供了一些帮助。

原文摘要:

Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection

Stéphanie Debette, Yoichiro Kamatani, Tiina M Metso, Manja Kloss, Ganesh Chauhan, Stefan T Engelter, Alessandro Pezzini, Vincent Thijs, Hugh S Markus, Martin Dichgans, Christiane Wolf, Ralf Dittrich, Emmanuel Touzé, Andrew M Southerland, Yves Samson, Shérine Abboud, Yannick Béjot, Valeria Caso, Anna Bersano, Andreas Gschwendtner, Maria Sessa, John Cole, Chantal Lamy, Elisabeth Medeiros, Simone Beretta et al.

Cervical artery dissection (CeAD), a mural hematoma in a carotid or vertebral artery, is a major cause of ischemic stroke in young adults although relatively uncommon in the general population (incidence of 2.6/100,000 per year)1. Minor cervical traumas, infection, migraine and hypertension are putative risk factors1, 2, 3, and inverse associations with obesity and hypercholesterolemia are described3, 4. No confirmed genetic susceptibility factors have been identified using candidate gene approaches5. We performed genome-wide association studies (GWAS) in 1,393 CeAD cases and 14,416 controls. The rs9349379[G] allele (PHACTR1) was associated with lower CeAD risk (odds ratio (OR) = 0.75, 95% confidence interval (CI) = 0.69–0.82; P = 4.46 × 10−10), with confirmation in independent follow-up samples (659 CeAD cases and 2,648 controls; P = 3.91 × 10−3; combined P = 1.00 × 10−11). The rs9349379[G] allele was previously shown to be associated with lower risk of migraine and increased risk of myocardial infarction6, 7, 8, 9. Deciphering the mechanisms underlying this pleiotropy might provide important information on the biological underpinnings of these disabling conditions.(doi:10.1038/ng.3154

来源: Nature Genetics 浏览次数:76

热门文章TOP

RSS订阅 - 填写您的邮件地址,订阅我们的精彩内容: - 网站地图
网站联系电话:020-87540820 备案号:粤ICP备11050685号-8 增值电信业务经营许可证:粤B2-20120479
©2011-2015 生物帮 All rights reserved.