EPHB4 gene polymorphisms and risk of intracranial hemorrhage in patients with brain arteriovenous malformations.

ABSTRACT:

Background

Brain arteriovenous malformations (BAVMs) are a tangle of abnormal vessels directly shunting blood from the arterial to venous circulation and an important cause of intracranial hemorrhage (ICH). EphB4 is involved in arterial-venous determination during embryogenesis; altered signaling could lead to vascular instability resulting in ICH. We investigated the association of single-nucleotide polymorphisms (SNPs) and haplotypes in EPHB4 with risk of ICH at clinical presentation in patients with BAVM.

Methods and results

Eight haplotype-tagging SNPs spanning approximately 29 kb were tested for association with ICH presentation in 146 white patients with BAVM (phase I: 56 ICH, 90 non-ICH) using allelic, haplotypic, and principal components analysis. Associated SNPs wer

SUBMITTER: Weinsheimer S 

PROVIDER: S-EPMC2939745 | biostudies-literature | 2009 Oct

REPOSITORIES: biostudies-literature