Genetic Variants Underlying Risk of Intracranial Aneurysms: Insights from a GWAS in Portugal.

ABSTRACT: Subarachnoid hemorrhage (SAH) is a life-threatening event that most frequently leads to severe disability and death. Its most frequent cause is the rupture of a saccular intracranial aneurysm (IA), which is a blood vessel dilation caused by disease or weakening of the vessel wall. Although the genetic contribution to IA is well established, to date no single gene has been unequivocally identified as responsible for IA formation or rupture. We aimed to identify IA susceptibility genes in the Portuguese population through a pool-based multistage genome-wide association study. Replicate pools were allelotyped in triplicate in a discovery dataset (100 IA cases and 92 gender-matched controls) using the Affymetrix Human SNP Array 6.0. Top SNPs (absolute value of the relative allele score differe

SUBMITTER: Abrantes P 

PROVIDER: S-EPMC4505843 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature