Common variants on 9p21.3 are associated with brain arteriovenous malformations with accompanying arterial aneurysms.

ABSTRACT:

Objective

To investigate whether previously reported 9p21.3 single nucleotide polymorphisms (SNPs) are associated with risk of brain arteriovenous malformations (BAVM), which often have accompanying arterial aneurysms. Common variants in the 9p21.3 locus have been reported to be associated with multiple cardiovascular phenotypes, including coronary artery disease and intracranial aneurysms (rs10757278 and rs1333040).

Methods

We used data from 338 BAVM cases participating in the University of California, San Francisco (UCSF)-Kaiser Brain AVM Study Project and 504 healthy controls to evaluate genotypes for seven common SNPs (minor allele frequency>0.05) that were imputed using 1000 Genomes Phase 1 European data (R(2)>0.87). Association with BAVM was tested using logistic regre

SUBMITTER: Bendjilali N 

PROVIDER: S-EPMC4201968 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature