Genome-wide association study of sporadic brain arteriovenous malformations.
Weinsheimer S, Bendjilali N, Nelson J et al.
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The pathogenesis of sporadic brain arteriovenous malformations (BAVMs) remains unknown, but studies suggest a genetic component. We estimated the heritability of sporadic BAVM and performed a genome-wide association study (GWAS) to investigate association of common single nucleotide polymorphisms (SNPs) with risk of sporadic BAVM in the international, multicentre Genetics of Arteriovenous Malformation (GEN-AVM) consortium.
515 European ancestry cases, 1191 European ancestry controls
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