Annually, over 30,000 people in the U.S. suffer from subarachnoid hemorrhage due to a ruptured cerebral aneurysm, with nearly 60% fatality. Little is known about susceptibility to intracranial aneurysm (IA), although it is well recognized that there is a familial component, likely to be genetic in origin. No studies have directly addressed or identified a genetic link. Identification of a susceptibility locus could potentially alter the aggressive natural history of aneurysms, will provide an opportunity for early diagnosis of those individuals at greatest risk, and could potentially lead to genetic therapies. Analysis of the Utah Population Database (UPDB) has shown that aneurysm has a strong familial component. This database, which combines a genealogy of Utah founders and their descendants with death certificates in the state since 1956 provides an excellent resource for ascertaining the extended high-risk families which will make gene localization possible. The goals of the proposal are to identify high-risk families, screen relatives of affected individuals using high resolution magnetic resonance angiography to detect aneurysms, collect blood samples for DNA from family members, characterize familial intracranial aneurysms and use a genome- wide search to identify susceptibility loci for familial intracranial aneurysms.

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Research Project (R01)
Project #
5R01NS037737-02
Application #
2892427
Study Section
Mammalian Genetics Study Section (MGN)
Program Officer
Jacobs, Tom P
Project Start
1998-08-10
Project End
2002-04-30
Budget Start
1999-05-01
Budget End
2000-04-30
Support Year
2
Fiscal Year
1999
Total Cost
Indirect Cost
Name
University of Utah
Department
Biostatistics & Other Math Sci
Type
Schools of Medicine
DUNS #
City
Salt Lake City
State
UT
Country
United States
Zip Code
84112
Diedrich, Karl T; Roberts, John A; Schmidt, Richard H et al. (2011) Medical record and imaging evaluation to identify arterial tortuosity phenotype in populations at risk for intracranial aneurysms. AMIA Annu Symp Proc 2011:295-304
Berthelemy-Okazaki, Nicole; Zhao, Yu; Yang, Zhenglin et al. (2005) Examination of ELN as a candidate gene in the Utah intracranial aneurysm pedigrees. Stroke 36:1283-4
Farnham, James M; Camp, Nicola J; Neuhausen, Susan L et al. (2004) Confirmation of chromosome 7q11 locus for predisposition to intracranial aneurysm. Hum Genet 114:250-5
Cannon Albright, Lisa A; Camp, Nicola J; Farnham, James M et al. (2003) A genealogical assessment of heritable predisposition to aneurysms. J Neurosurg 99:637-43