Genetics of intracranial aneurysms and related diseases

F.N.G. van 't Hof

Genetics of intracranial aneurysms and related diseases

F.N.G. van 't Hof

Research output: Thesis › Doctoral thesis 1 (Research UU / Graduation UU)

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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.

Original language	English
Awarding Institution	University Medical Center (UMC) Utrecht
Supervisors/Advisors	Rinkel, Gabriel, Primary supervisor de Bakker, P.I.W., Supervisor Ruigrok, Ynte, Co-supervisor
Award date	24 May 2017
Publisher	Utrecht University
Print ISBNs	978-629-5613-1
Publication status	Published - 24 May 2017

Keywords

aneurysm
stroke
genetics
gene expression

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title = "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.",

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publisher = "Utrecht University",

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TY - THES

T1 - Genetics of intracranial aneurysms and related diseases

AU - van 't Hof, F.N.G.

N1 - Brain Center Rudolf Magnus ; 180

PY - 2017/5/24

Y1 - 2017/5/24

N2 - 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.

AB - 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.

KW - aneurysm

KW - stroke

KW - genetics

KW - gene expression

M3 - Doctoral thesis 1 (Research UU / Graduation UU)

SN - 978-629-5613-1

PB - Utrecht University

ER -

Genetics of intracranial aneurysms and related diseases

Abstract

Keywords

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