Genetics of intracranial aneurysms and related diseases

Abstract

Intracranial aneurysms (IA) are dilatations of the vessel walls of cerebral arteries. Some can rupture and result in a subarachnoid hemorrhage (SAH), a severe subtype of stroke. This thesis is set out to elucidate the pathophysiology of IA from a genetic perspective. The main conclusions are: 1. Patients with IA at the middle cerebral artery have a higher burden of genetic risk factors than other IA patients; 2. No relevant RNA changes can be measured in blood of former SAH patients; 3. Low-frequent genetic variants in the FBLN2 gene are collectively associated with IA; 4. Intracranial, abdominal aortic (AAA) and thoracic aortic aneurysms (TAA) are both clinically and genetically different diseases, but they share some genetic risk variants; 5. Diseases which increase the risk on IA or AAA, also share part of their genetic backgrounds with IA or AAA.