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The Familial Intracranial Aneurysm (FIA) study protocol
Joseph P Broderick1, Laura R Sauerbeck, Tatiana Foroud
1Department of Neurology, University of Cincinnati, 231 Albert Sabin Way, Cincinnati, OH 45267-0525, USA. joseph.broderick@uc.edu
BMC Medical Genetics
|April 28, 2005
Summary
Identifying genetic factors for intracranial aneurysms (IAs) is crucial due to high mortality. The Familial Intracranial Aneurysm (FIA) Study uses innovative methods to overcome challenges in genetic research for IA.
Area of Science:
- Genetics
- Neurology
- Epidemiology
Background:
- Subarachnoid hemorrhage (SAH) from ruptured intracranial aneurysms (IAs) affects 20,000 annually in the U.S., with high mortality and disability.
- Genetic factors are implicated in IA formation and rupture, necessitating research into their role.
- Primary prevention of IA formation and rupture is critical.
Purpose of the Study:
- To identify genes contributing to the development and rupture of intracranial aneurysms (IAs).
- To conduct a genetic linkage study for familial intracranial aneurysms (FIA).
Main Methods:
- The Familial Intracranial Aneurysm (FIA) Study enrolled 475 families across 26 clinical centers.
- Methods included standardized questionnaires, DNA isolation, magnetic resonance angiography (MRA), and genome screening.
- Novel approaches were used to reconstruct genotypes of deceased individuals.
Main Results:
- A genome screen was performed to identify FIA susceptibility loci.
- Data from deceased individuals were reconstructed using marker data from relatives.
- Environmental covariates were included in statistical analysis.
Conclusions:
- Conducting a powerful genetic linkage study for IA is challenging due to high early mortality.
- The FIA Study employed design features to address mortality challenges.
- These features include multi-center recruitment, advanced screening, non-invasive imaging, genome reconstruction, and covariate analysis.