Genetic Insights into the Enigma of Family Intracranial Aneurysms

Abstract

Familial intracranial aneurysms (FIAs) are distinguished by significant genetic predisposition, leading to clustering of cases within families and heightening the risk of subarachnoid hemorrhage following aneurysm rupture. This review analyzes recent advancements in understanding the genetic and molecular mechanisms underlying FIAs, focusing on key genetic risk factors and environmental influences. We explore cutting-edge genome-wide association studies and next-generation sequencing technologies, which have identified susceptibility genes such as ANGPTL6, peptidyl proline cis-trans isomerase like protein 4, and NOTCH3 as crucial contributors to FIA pathophysiology. By incorporating findings from multiomics and gene-editing research, we highlight the potential for improved screening, preventive strategies, and therapeutic approaches. These insights are essential to advancing precision medicine in managing FIAs, paving the way for collaborative research and targeted interventions.