Dataset Information

Whole Exome Sequencing for Familial Intracranial Aneurysm (FIA I-II) Study

ABSTRACT:

The goal of this study is to identify the genes underlying the risk of intracranial aneurysm (IA). The FIA Study initially recruited families appropriate for linkage analysis. Therefore, the recruitment focus was not only on probands with a family history of IA but also required that biological samples be obtained for at least two affected family members. Family members underwent detailed interviews for medical, social and family history, and provided blood samples for DNA extraction. Over 400 multiplex IA families were recruited and enrolled.

The whole exome sequencing project aims to identify novel and rare (in the general population) genetic variants that are enriched in seven extended multiplex families with a strong familial aggregation of intracranial aneurysms.

PROVIDER: phs000636.v1.p1 | EGA |

REPOSITORIES: EGA

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Publications

Genome screen in familial intracranial aneurysm.

Foroud Tatiana T Sauerbeck Laura L Brown Robert R Anderson Craig C Woo Daniel D Kleindorfer Dawn D Flaherty Matthew L ML Deka Ranjan R Hornung Richard R Meissner Irene I Bailey-Wilson Joan E JE Langefeld Carl C Rouleau Guy G Connolly E Sander ES Lai Dongbing D Koller Daniel L DL Huston John J Broderick Joseph P JP

BMC medical genetics 20090113

<h4>Background</h4>Individuals with 1st degree relatives harboring an intracranial aneurysm (IA) are at an increased risk of IA, suggesting genetic variation is an important risk factor.<h4>Methods</h4>Families with multiple members having ruptured or unruptured IA were recruited and all available medical records and imaging data were reviewed to classify possible IA subjects as definite, probable or possible IA or not a case. A 6 K SNP genome screen was performed in 333 families, representing t ...[more]

PMID: 19144135

Publication: 1/2

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Project description:<p>Our long-term objective is to identify susceptibility genes that are related to the formation of intracranial aneurysms (IA). Rupture of IAs occurs in 16,000 to 17,000 persons in the U.S. annually and nearly half of affected persons are dead within the first 30 days. An additional 6,000 to 7,000 persons with unruptured IAs are identified each year. Accumulated evidence indicates that a genetic component plays an important role in the development of IAs, but specific loci affecting the risk of IA have not been identified. The primary hypothesis of this study is that there are specific human chromosomal regions that are associated with an increased risk of IAs. Specific Aims of are: <ol> <li>Recruitment of 400 (475) families with multiple individuals who have an IA through 23 (25) referral centers throughout North America, Australia, and New Zealand that represent 35 (40) recruitment sites.</li> <li>Ascertainment of interviews and blood samples from all affected family members as well as their first-degree relatives. White blood cells from living persons with an IA will be cryopreserved at Coriell Institute for Medical Research for future immortalization of cells lines as indicated.</li> <li>Identification of unruptured IAs by obtaining MRAs in selected asymptomatic siblings (of affected individuals).</li> <li>Completion of a 10 cM genome series in persons with IAs as well as the spouses and children of persons with an IA who are deceased. We will perform finer mapping of chromosomal regions with suggestive evidence of linkage in the genome screen.</li> <li>Performance of a nonparametric (allele sharing) linkage analysis, including relevant environmental factors such as smoking, to identify chromosomal regions linked to IA. Reconstruction of the genotypes of deceased affected family members will be performed.</li> </ol> </p> <p>Identification of individuals who are genetically at high risk for the development of IAs would enable targeted and effective screening/prevention/treatment strategies to reduce the substantial mortality and morbidity associated with this devastating type of stroke. Only a multidisciplinary, collaborative effort to identify, accrue, and genotype FIA families will be successful in identifying sufficient high-risk families to characterize the genetic underpinnings of IA.</p>

Dataset Information

Whole Exome Sequencing for Familial Intracranial Aneurysm (FIA I-II) Study

Publications

Genome screen in familial intracranial aneurysm.

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