BACKGROUND AND PURPOSE: Approximately 2% of the general population harbor intracranial aneurysms. The prognosis after rupture of an intracranial aneurysm is poor; 50% of the patients die as a result of the rupture. Familial occurrence of intracranial aneurysms suggests there are genetic factors involved in the development of such aneurysms. METHODS: A large, consanguineous pedigree with 7 of 20 siblings affected by intracranial aneurysms was compiled and a genomewide linkage analysis on this family was performed using Illumina's single nucleotide polymorphism-based linkage panel IV, which includes 5861 single nucleotide polymorphisms. A nonparametric linkage affecteds-only approach with GENEHUNTER was used. RESULTS: Two loci with suggestive linkage (nonparametric linkage=3.18) on chromosome regions 1p36 and Xp22 were identified. Additional microsatellite markers were genotyped in the 2 candidate loci and showed suggestive linkage to the locus on chromosome 1 with a nonparametric linkage of 3.18 at 1p36.11-p36.13 and significant linkage to the locus on chromosome X with a nonparametric linkage of 4.54 at Xp22.2-p22.32. CONCLUSIONS: The 2 potential loci for intracranial aneurysms, which we identified in this large Dutch family, overlap with loci that have already been identified in previous linkage studies from different populations. Identification of genes from these loci will be important for a better understanding of the disease pathogenesis.
BACKGROUND AND PURPOSE: Approximately 2% of the general population harbor intracranial aneurysms. The prognosis after rupture of an intracranial aneurysm is poor; 50% of the patients die as a result of the rupture. Familial occurrence of intracranial aneurysms suggests there are genetic factors involved in the development of such aneurysms. METHODS: A large, consanguineous pedigree with 7 of 20 siblings affected by intracranial aneurysms was compiled and a genomewide linkage analysis on this family was performed using Illumina's single nucleotide polymorphism-based linkage panel IV, which includes 5861 single nucleotide polymorphisms. A nonparametric linkage affecteds-only approach with GENEHUNTER was used. RESULTS: Two loci with suggestive linkage (nonparametric linkage=3.18) on chromosome regions 1p36 and Xp22 were identified. Additional microsatellite markers were genotyped in the 2 candidate loci and showed suggestive linkage to the locus on chromosome 1 with a nonparametric linkage of 3.18 at 1p36.11-p36.13 and significant linkage to the locus on chromosome X with a nonparametric linkage of 4.54 at Xp22.2-p22.32. CONCLUSIONS: The 2 potential loci for intracranial aneurysms, which we identified in this large Dutch family, overlap with loci that have already been identified in previous linkage studies from different populations. Identification of genes from these loci will be important for a better understanding of the disease pathogenesis.
Authors: Kaya Bilguvar; Katsuhito Yasuno; Mika Niemelä; Ynte M Ruigrok; Mikael von Und Zu Fraunberg; Cornelia M van Duijn; Leonard H van den Berg; Shrikant Mane; Christopher E Mason; Murim Choi; Emília Gaál; Yasar Bayri; Luis Kolb; Zulfikar Arlier; Sudhakar Ravuri; Antti Ronkainen; Atsushi Tajima; Aki Laakso; Akira Hata; Hidetoshi Kasuya; Timo Koivisto; Jaakko Rinne; Juha Ohman; Monique M B Breteler; Cisca Wijmenga; Matthew W State; Gabriel J E Rinkel; Juha Hernesniemi; Juha E Jääskeläinen; Aarno Palotie; Ituro Inoue; Richard P Lifton; Murat Günel Journal: Nat Genet Date: 2008-11-09 Impact factor: 38.330
Authors: Jie Liu; Xuan Zou; Yan Zhao; Zhangning Jin; Jun Tu; Xianjia Ning; Jidong Li; Xinyu Yang; Jinghua Wang Journal: Front Neurol Date: 2022-03-23 Impact factor: 4.003