title: Molecular basis and genetic predisposition to intracranial aneurysm.
abstract: Intracranial aneurysms, also called cerebral aneurysms, are dilatations in the arteries that supply blood to the brain. Rupture of an intracranial aneurysm leads to a subarachnoid hemorrhage, which is fatal in about 50% of the cases. Intracranial aneurysms can be repaired surgically or endovascularly, or by combining these two treatment modalities. They are relatively common with an estimated prevalence of unruptured aneurysms of 2%-6% in the adult population, and are considered a complex disease with both genetic and environmental risk factors. Known risk factors include smoking, hypertension, increasing age, and positive family history for intracranial aneurysms. Identifying the molecular mechanisms underlying the pathogenesis of intracranial aneurysms is complex. Genome-wide approaches such as DNA linkage and genetic association studies, as well as microarray-based mRNA expression studies, provide unbiased approaches to identify genetic risk factors and dissecting the molecular pathobiology of intracranial aneurysms. The ultimate goal of these studies is to use the information in clinical practice to predict an individual's risk for developing an aneurysm or monitor its growth or rupture risk. Another important goal is to design new therapies based on the information on mechanisms of disease processes to prevent the development or halt the progression of intracranial aneurysms.
authors.affiliation: The Sigfried and Janet Weis Center for Research, Geisinger Health System , Danville, Pennsylvania , USA.
authors.forename: Gerard
authors.initials: G
authors.lastname: Tromp
authors.forename: Shantel
authors.initials: S
authors.lastname: Weinsheimer
authors.forename: Antti
authors.initials: A
authors.lastname: Ronkainen
authors.forename: Helena
authors.initials: H
authors.lastname: Kuivaniemi
mesh_terms: D015870:Gene Expression; D059647:Gene-Environment Interaction; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D002532:Intracranial Aneurysm / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
keywords: Berry aneurysm; candidate gene analyses; genetic association studies; intracranial aneurysms; linkage mapping; microarray analysis; subarachnoid hemorrhage