腦動脈瘤（brain aneurysm）是腦動脈壁的局限性囊性擴(kuò)張,，它會導(dǎo)致致命的血管破裂，世界上每年患病的人數(shù)高達(dá)50萬,。一個國際科學(xué)家小組近日發(fā)現(xiàn)了3個與腦動脈瘤風(fēng)險增加有關(guān)的染色體片段,，在揭開腦動脈瘤奧秘的道路上邁出了關(guān)鍵性的一步。相關(guān)論文11月9日在線發(fā)表于《自然—遺傳學(xué)》（Nature Genetics）,。
出血性中風(fēng)發(fā)生的中值年齡是50歲,，而且通常并無預(yù)兆。在大多數(shù)案例中,，這種中風(fēng)會導(dǎo)致嚴(yán)重或致死的腦損傷,。由于對內(nèi)在機(jī)理缺乏了解，醫(yī)生只能在病發(fā)后才能作出反應(yīng),，而這時大部分傷害已經(jīng)形成,。美國新當(dāng)選的副總統(tǒng)約瑟夫?拜登20年前曾患過此病，不過他幸存了下來,，且將腦部受到的傷害控制到了最小程度,。
在最新研究中，美國耶魯大學(xué)醫(yī)學(xué)院的Murat Gunel和日本,、荷蘭等國科學(xué)家一起,，掃描了2000個患有顱內(nèi)動脈瘤和8000個健康個體的基因組。研究人員發(fā)現(xiàn)了3個特殊的染色體片段,，其上的普通遺傳突變能顯著增加腦動脈瘤的風(fēng)險,，從而導(dǎo)致中風(fēng)。這些個體分別來自芬蘭,、荷蘭以及日本,，各個小組的檢測結(jié)果相似，說明這些突變在不同的人群中均會增加患病風(fēng)險,。
新研究還表明，危險基因突變數(shù)的增加會加大患腦動脈瘤的風(fēng)險,，攜帶較多危險基因突變的個體患病風(fēng)險是常人的3倍,。
論文合著者、耶魯大學(xué)醫(yī)學(xué)院的Richard Lifton說：“這些發(fā)現(xiàn)提供了基礎(chǔ)性的認(rèn)識,，幫助我們了解一些遺傳和生化變化導(dǎo)致了這個破壞性的腦部疾病,，同時也提供了希望——我們有可能在血管破裂發(fā)生前進(jìn)行預(yù)防性的治療。”（生物谷Bioon.com）
生物谷推薦原始出處：
Nature Genetics,，doi:10.1038/ng.240,，Kaya Bilguvar，Murat Günel
Susceptibility loci for intracranial aneurysm in European and Japanese populations
Stroke is the world's third leading cause of death. One cause of stroke, intracranial aneurysm, affects 2% of the population and accounts for 500,000 hemorrhagic strokes annually in mid-life (median age 50), most often resulting in death or severe neurological impairment1. The pathogenesis of intracranial aneurysm is unknown, and because catastrophic hemorrhage is commonly the first sign of disease, early identification is essential. We carried out a multistage genome-wide association study (GWAS) of Finnish, Dutch and Japanese cohorts including over 2,100 intracranial aneurysm cases and 8,000 controls. Genome-wide genotyping of the European cohorts and replication studies in the Japanese cohort identified common SNPs on chromosomes 2q, 8q and 9p that show significant association with intracranial aneurysm with odds ratios 1.24–1.36. The loci on 2q and 8q are new, whereas the 9p locus was previously found to be associated with arterial diseases, including intracranial aneurysm2, 3, 4, 5. Associated SNPs on 8q likely act via SOX17, which is required for formation and maintenance of endothelial cells6, 7, 8, suggesting a role in development and repair of the vasculature; CDKN2A at 9p may have a similar role9. These findings have implications for the pathophysiology, diagnosis and therapy of intracranial aneurysm.
