Genetic associations of intracranial aneurysm formation and sub-arachnoid hemorrhage

Christian B Theodotou, Brian M Snelling, Samir Sur, Diogo C Haussen, Eric C Peterson, Mohamed Samy Elhammady

Asian Journal of Neurosurgery 2017 12(3):374-381

Risk factors for cerebral aneurysms typically include age, hypertension, smoking, and alcohol usage. However, the possible connection of aneurysms with genetic conditions such as Marfan's syndrome, polycystic kidney disease, and neurofibromatosis raises the question of possible genetic risk factors for aneurysm, and additionally, genetic risk factors for rupture. We conducted a literature review using the PubMed database for studies regarding genetic correlation with cerebral aneurysm formation as well as rupture from December 2008 to Jun 2015. Twenty-one studies related to IA formation and 10 concerning IA rupture that met our criteria were found and tabulated. The most studied gene and the strongest association was 9p21/CDKN2, which is involved in vessel wall remodelling. Other possible genes that may contribute to IA formation include EDNRA and SOX17; however, these factors were not studied as robustly as CDKN2. Multiple factors contribute to aneurysm formation and rupture and the contributions of blood flow dynamics and comorbidities as mentioned previously, cannot be ignored. While these elements are important to development and rupture of aneurysms, genetic influence may predispose certain patients to formation of aneurysms and eventual rupture.

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