Proceedings of the 21st International Stroke Genetics Consortium Workshop

摘要

Objective Exploring the genetics' associated with the formation, progression and rupture of intracranial aneurysms. Background Intracranial aneurysm is a multifactorial disease resulting from a disequilibrium between injury and repair. Genetics may contribute to better identify patients at risk, classify cases in disease subtypes, better understand the patho-physiology and identify potential therapeutic targets. Exploring the genetics of intracranial aneurysm requires a high volume of cases documented with high quality data covering the phenotype description and genotype. A multi-center international collaboration is necessary. Design/Methods An infrastructure to manage collaboration has been set up. A list of project has been prioritized. Data has been collected, harmonized, and tools to explore the data and generate optimal study groups to be compared developed. Results A standard data set including the basis of recruitment, gender, age at diagnosis, IA familial history status, smoking status, number of IA, IA location, size and rupture status of genotyped patients and healthy volunteers has been harmonized from 13 sources world-wide. GWAS data is available for 4,002 patients. Associated phenotypic data is available currently for 3,492 patients (2,346 females, 1,145 males), 1,106 patients with a positive familial history, 2,102 patients with sporadic IA. Smoking status is known for 3,742 subjects, 1,395 never smokers and 2,346 former or current smokers. Age at aneurysm rupture is known for 2,441 patients. Number of aneurysms is known for 3,372 patients, 956 with multiple aneurysms and 2,416 with a single aneurysm. Rupture status of aneurysm is known for 3,342 cases, 2,323 ruptured and 1,019 unruptured. Aneurysm location is known for 3,333 cases, 891 Acom aneurysm, 843 MCA aneurysms, 598 ICA aneurysms, 849 Pcom and vertebrobasilar aneurysms. Size of aneurysm at rupture is known in 1,461 patients, 782 are less than 7 mm, 537 between 7 and 12 mm, 126 between 12 and 25 mm, 15 more than 25 mm. Conclusions Efforts to collect and harmonize data from more sources is continuing. The working group has sufficient data to start subgroup analysis and is raising funds to further increase the numbers in the database and increase the statistical power.