Search for intracranial aneurysm susceptibility gene(s) using Finnish families

作者: Jane M Olson , Sompong Vongpunsawad , Helena Kuivaniemi , Antti Ronkainen , Juha Hernesniemi

DOI: 10.1186/1471-2350-3-7

关键词:

摘要: Cerebrovascular disease is the third leading cause of death in United States, and about one-fourth cerebrovascular deaths are attributed to ruptured intracranial aneurysms (IA). Epidemiological evidence suggests that IAs cluster families, therefore probably genetic. Identification individuals at risk for developing by genetic tests will allow concentration diagnostic imaging on high-risk individuals. We used model-free linkage analysis based allele sharing with a two-stage design genome-wide scan identify chromosomal regions may harbor IA loci. previously estimated sibling relative Finnish population between 9 16, proceeded loci predisposing IA. In 85 families two or more affected members, 48 pairs (ASPs) were available our study. Power calculations indicated ASPs adequate likely genes liberal stage I lod score threshold 0.8 provided reasonable balance detection false positive failure detect real moderate effect. Seven exceeded five 1.0. The most significant region, chromosome 19q, had maximum multipoint (MLS) 2.6. Our study provides locations Further studies necessary elucidate their role pathophysiology IA, tests.

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