title: Identification of an autosomal dominant locus for intracranial aneurysm through a model-based family collection in a geographically limited area.
abstract: Intracranial aneurysm (IA) is characterized by an abnormal bulging of one of the arteries in the brain and is heavily affected by genetic factors. Although IA is a very serious disease because of its severity and prevalence in the general public, the gene causing IA has not yet been identified due mainly to the lack of definitive genetic loci for the disease. Following a model-based family collection that recruited families from a geographically limited area that inherited IA as an autosomal dominant trait, we conducted a genome-wide linkage analysis. Significant evidence of linkage to IA was found on chromosome 8p22.2 with a maximum two-point logarithm of the odds ratio score of 3.61 under an autosomal dominant model of inheritance. The methods described in this study could be applied to localize disease-causing genes of other complex diseases through either a genome-wide linkage analysis or a genome-wide association study.
authors: Department of Neurosurgery and Research Institute of Clinical Medicine, Chonbuk National University Medical School and Hospital, Chonju, Chonbuk, South Korea.
authors: Chul-Jin
authors: CJ
authors: Kim
authors: Seung Soo
authors: SS
authors: Park
authors: Hyun-Seo
authors: HS
authors: Lee
authors: Hea-Jong
authors: HJ
authors: Chung
authors: Woori
authors: W
authors: Choi
authors: Jin-Ho
authors: JH
authors: Chung
authors: Jin-Man
authors: JM
authors: Kim
authors: Seong-Tshool
authors: ST
authors: Hong
mesh_terms: D000328:Adult; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D008040:Genetic Linkage; D056426:Genetic Loci; D055106:Genome-Wide Association Study; D006801:Humans; D002532:Intracranial Aneurysm / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D055815:Young Adult