The genetics of intracranial aneurysms.
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.
Krischek
Boris
B
Division of Genetic Diagnosis, Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Tokyo 108-8639, Japan.
Inoue
Ituro
I
D017542:Aneurysm, Ruptured / Q000473:pathology; D002533:Cerebral Angiography; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14; D002888:Chromosomes, Human, Pair 19; D002895:Chromosomes, Human, Pair 5; D002897:Chromosomes, Human, Pair 7; D041321:Chromosomes, Human, X; D008040:Genetic Linkage; D006801:Humans; D002532:Intracranial Aneurysm / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000209:etiology / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D018810:Magnetic Resonance Angiography; D012307:Risk Factors; D013345:Subarachnoid Hemorrhage / Q000235:genetics / Q000473:pathology