BACKGROUND AND PURPOSE: In previous studies of familial intracranial aneurysm (IA), parametric linkage analyses have been undertaken for five unrelated families, four providing maximum logarithm of odds (LOD) scores with dominant models and one with a recessive model. Each family was linked to a distinct locus, indicating locus heterogeneity. This study aimed to examine whether Japanese IA families consistent with autosomal-dominant mode of inheritance support linkage to these loci. METHODS: We performed genomewide linkage analysis using the GENEHUNTER program. Affected-only parametric linkage analysis was used for 41 affected members in nine unrelated IA families with dominant models, which were selected from 29 families used for a nonparametric (model-free) linkage analysis in our previous study. RESULTS: We failed to support the linkage to previously reported autosomal-dominant loci. Instead, we found linkage to chromosome 19q13.3 with a maximum multipoint LOD score of 4.10. The LOD-1 interval (regions with LOD scores of >1) was 8.0 cM between D19S198 and D19S902. CONCLUSIONS: A genomewide scan for IA families with dominant models in Japan confirmed the locus at chromosome 19q13.3, which has also been reported as a candidate locus in a Finnish population.
BACKGROUND AND PURPOSE: In previous studies of familial intracranial aneurysm (IA), parametric linkage analyses have been undertaken for five unrelated families, four providing maximum logarithm of odds (LOD) scores with dominant models and one with a recessive model. Each family was linked to a distinct locus, indicating locus heterogeneity. This study aimed to examine whether Japanese IA families consistent with autosomal-dominant mode of inheritance support linkage to these loci. METHODS: We performed genomewide linkage analysis using the GENEHUNTER program. Affected-only parametric linkage analysis was used for 41 affected members in nine unrelated IA families with dominant models, which were selected from 29 families used for a nonparametric (model-free) linkage analysis in our previous study. RESULTS: We failed to support the linkage to previously reported autosomal-dominant loci. Instead, we found linkage to chromosome 19q13.3 with a maximum multipoint LOD score of 4.10. The LOD-1 interval (regions with LOD scores of >1) was 8.0 cM between D19S198 and D19S902. CONCLUSIONS: A genomewide scan for IA families with dominant models in Japan confirmed the locus at chromosome 19q13.3, which has also been reported as a candidate locus in a Finnish population.
Authors: Tiia M Luukkonen; Minna Pöyhönen; Aarno Palotie; Pekka Ellonen; Sonja Lagström; Joseph H Lee; Joseph D Terwilliger; Riitta Salonen; Teppo Varilo Journal: J Med Genet Date: 2012-10 Impact factor: 6.318
Authors: D Woo; J Khoury; M M Haverbusch; P Sekar; M L Flaherty; D O Kleindorfer; B M Kissela; C J Moomaw; R Deka; J P Broderick Journal: Neurology Date: 2009-01-06 Impact factor: 9.910
Authors: Tatiana Foroud; Laura Sauerbeck; Robert Brown; Craig Anderson; Daniel Woo; Dawn Kleindorfer; Matthew L Flaherty; Ranjan Deka; Richard Hornung; Irene Meissner; Joan E Bailey-Wilson; Guy Rouleau; E Sander Connolly; Dongbing Lai; Daniel L Koller; John Huston; Joseph P Broderick Journal: Stroke Date: 2008-03-06 Impact factor: 7.914
Authors: Tatiana Foroud; Laura Sauerbeck; Robert Brown; Craig Anderson; Daniel Woo; Dawn Kleindorfer; Matthew L Flaherty; Ranjan Deka; Richard Hornung; Irene Meissner; Joan E Bailey-Wilson; Carl Langefeld; Guy Rouleau; E Sander Connolly; Dongbing Lai; Daniel L Koller; John Huston; Joseph P Broderick Journal: BMC Med Genet Date: 2009-01-13 Impact factor: 2.103