Genetic associations of intracranial aneurysm formation and sub-arachnoid hemorrhage.

• Type of Material: Article
• Authors: Christian B. Theodotou, University of Miami; Brian M. Snelling, University of Miami; Samir Sur, University of Miami; Diogo Haussen, Emory University; Eric C. Peterson, University of Miami; Mohammed S. Elhammady, University of Miami
• Language: English
• Date: 2017-07-10
• Publisher: Medknow Publications
• Publication Version: Final Published Version
• Copyright Statement: © 2016 Asian Journal of Neurosurgery
• License: Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported
• Final Published Version (URL): http://dx.doi.org/10.4103/1793-5482.180972
• Title of Journal or Parent Work: Asian Journal of Neurosurgery
• ISSN: 1793-5482
• Volume: 12
• Issue: 3
• Start Page: 374
• End Page: 381
• Keywords: rupture; genetics; intracranial aneurysm; sub-arachnoid hemorrhage; Formation
• Research Categories: Health Sciences, Medicine and Surgery; Biology, Neuroscience

Abstract

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.