Genome-wide association study of sporadic brain arteriovenous malformations.

Shantel WeinsheimerNasrine BendjilaliJeffrey NelsonDiana E GuoJonathan G ZaroffStephen SidneyCharles E McCullochRustam Al-Shahi SalmanJonathan N BergBobby P C KoelemanMatthias SimonAzize BostroemMarco FontanellaCarmelo L SturialeRoberto PolaAlfredo PucaMichael T LawtonWilliam L YoungLudmila PawlikowskaCatharina J M KlijnHelen Kimnull null

Published in: Journal of neurology, neurosurgery, and psychiatry (2016)

We performed the first GWAS of sporadic BAVM in the largest BAVM cohort assembled to date. No GWAS SNPs were replicated, suggesting that common SNPs do not contribute strongly to BAVM susceptibility. However, heritability estimates suggest a modest but significant genetic contribution.

Keyphrases

genome wide association study
genome wide
late onset
amyotrophic lateral sclerosis
dna methylation
genome wide association
white matter
copy number
resting state