颅内动脉瘤遗传学研究进展

Advances in genetics of intracranial aneurysm

颅内动脉瘤是颅内动脉管壁的异常膨出，其破裂可导致蛛网膜下腔出血，约50％的动脉瘤性蛛网膜下腔出血患者死亡或转归不良。目前认为，颅内动脉瘤是一种与遗传和环境因素相关的复杂疾病。尽管颅内动脉瘤的病因尚不完全清楚，但诸多证据表明遗传因素在其发生、发展和破裂过程中起着重要作用。文章对近年来颅内动脉瘤的基因连锁研究、全基因组关联研究以及基因表达研究的进展进行了综述。

Intracranial aneurysm is an abnormal bulging of intracranial artery wall. Its rupture can lead to subarachnoid hemorrhage. About 50% of patients with aneurysmal subarachnoid hemorrhage will die or have poor outcomes. At present, intracranial aneurysm is considered as a complex disease associated with genetic and environmental factors. Although the etiology of intracranial aneurysm is not completely clear, a lot of evidence has shown that the genetic factor plays an important role in the processes of its occurrence, development and rupture. This article reviews the advances in gene linkage research, genome wide association studies, and gene expression research in intracranial aneurysm in recent years.