Susceptibility loci for intracranial aneurysm in European and Japanese populations
| Autor: | Mikael von und zu Fraunberg, Juha Öhman, Juha E. Jääskeläinen, Hidetoshi Kasuya, Matthew W. State, Monique M.B. Breteler, Shrikant Mane, Jaakko Rinne, Luis Kolb, Cisca Wijmenga, Kaya Bilguvar, Juha Hernesniemi, Ynte M. Ruigrok, Katsuhito Yasuno, Mika Niemelä, Murat Gunel, Sudhakar Ravuri, Akira Hata, Ituro Inoue, Aarno Palotie, Atsushi Tajima, Gabriel J.E. Rinkel, Aki Laakso, Leonard H. van den Berg, Antti Ronkainen, Richard P. Lifton, Zulfikar Arlier, Christopher E. Mason, Murim Choi, Emilia Gaál, Cornelia M. van Duijn, Yasar Bayri, Timo Koivisto |
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| Přispěvatelé: | University of Groningen, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Epidemiology |
| Jazyk: | angličtina |
| Rok vydání: | 2008 |
| Předmět: |
medicine.medical_specialty
Population Genome-wide association study Disease Biology VARIANTS Polymorphism Single Nucleotide White People Article ANGIOGENESIS 03 medical and health sciences 0302 clinical medicine Aneurysm Asian People Internal medicine Genetics medicine LINKAGE Humans Genetic Predisposition to Disease HEMATOPOIETIC STEM-CELLS cardiovascular diseases GENOME-WIDE ASSOCIATION education SOX17 Stroke 030304 developmental biology Cause of death 0303 health sciences education.field_of_study Vascular disease REDUNDANT ROLES LARGE-SCALE Intracranial Aneurysm Odds ratio medicine.disease 3. Good health Chromosomes Human Pair 2 REPLICATION Chromosomes Human Pair 9 CONTRIBUTE 030217 neurology & neurosurgery Chromosomes Human Pair 8 Genome-Wide Association Study |
| Zdroj: | Nature Genetics, 40(12), 1472-1477. Nature Publishing Group |
| ISSN: | 1546-1718 1061-4036 |
| Popis: | Stroke is the world's third leading cause of death. One cause of stroke, intracranial aneurysm, affects similar to 2% of the population and accounts for 500,000 hemorrhagic strokes annually in mid-life (median age 50), most often resulting in death or severe neurological impairment(1). The pathogenesis of intracranial aneurysm is unknown, and because catastrophic hemorrhage is commonly the first sign of disease, early identification is essential. We carried out a multistage genome-wide association study (GWAS) of Finnish, Dutch and Japanese cohorts including over 2,100 intracranial aneurysm cases and 8,000 controls. Genome-wide genotyping of the European cohorts and replication studies in the Japanese cohort identified common SNPs on chromosomes 2q, 8q and 9p that show significant association with intracranial aneurysm with odds ratios 1.24-1.36. The loci on 2q and 8q are new, whereas the 9p locus was previously found to be associated with arterial diseases, including intracranial aneurysm(2-5). Associated SNPs on 8q likely act via SOX17, which is required for formation and maintenance of endothelial cells(6-8), suggesting a role in development and repair of the vasculature; CDKN2A at 9p may have a similar role(9). These findings have implications for the pathophysiology, diagnosis and therapy of intracranial aneurysm. |
| Databáze: | OpenAIRE |
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