Krischek Boris, Inoue Ituro
Division of Genetic Diagnosis, Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Tokyo 108-8639, Japan.
J Hum Genet. 2006;51(7):587-94. doi: 10.1007/s10038-006-0407-4. Epub 2006 May 31.
The rupture of an intracranial aneurysm (IA) leads to a subarachnoid hemorrhage, a sudden onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension and excessive alcohol intake are associated with subarachnoid hemorrhage. IAs, ruptured or unruptured, can be treated either surgically via a craniotomy (through an opening in the skull) or endovascularly by placing coils through a catheter in the femoral artery. Even though the etiology of IA formation is mostly unknown, several studies support a certain role of genetic factors. In reports so far, genome-wide linkage studies suggest several susceptibility loci that may contain one or more predisposing genes. Studies of several candidate genes report association with IAs. To date, no single gene has been identified as responsible for IA formation or rupture. The identification of susceptible genes may lead to the understanding of the mechanism of formation and rupture and possibly lead to the development of a pharmacological therapy.
颅内动脉瘤(IA)破裂会导致蛛网膜下腔出血,这是一种起病突然的疾病,可导致严重残疾和死亡。吸烟、高血压和过量饮酒等多种风险因素与蛛网膜下腔出血有关。无论是破裂还是未破裂的IA,都可以通过开颅手术(通过颅骨开口)进行外科治疗,或者通过将线圈经股动脉导管置入进行血管内治疗。尽管IA形成的病因大多未知,但多项研究支持遗传因素发挥一定作用。在迄今为止的报告中,全基因组连锁研究表明了几个可能包含一个或多个易感基因的易感位点。对几个候选基因的研究报告了与IA的关联。迄今为止,尚未确定单个基因是IA形成或破裂的原因。易感基因的鉴定可能有助于了解其形成和破裂机制,并可能推动药物治疗的发展。