Gene Expression Profiling of Blood in Brain Arteriovenous Malformation Patients

Shantel M. Weinsheimer, Huichun Xu, Achal S. Achrol, Boryana Stamova, Charles E. McCulloch, Ludmila Pawlikowska, Yingfang Tian, Nerissa U. Ko, Michael T. Lawton, Gary K. Steinberg, Steven D. Chang, Glen Jickling, Bradley Ander, Helen Kim, Frank R Sharp, William L. Young

Research output: Contribution to journalArticlepeer-review

23 Scopus citations


Brain arteriovenous malformations (BAVMs) are an important cause of intracranial hemorrhage (ICH) in young adults. Gene expression profiling of blood has led to the identification of stroke biomarkers and may help identify BAVM biomarkers and illuminate BAVM pathogenesis. It is unknown whether blood gene expression profiles differ between (1) BAVM patients and healthy controls or (2) unruptured and ruptured BAVM patients at presentation. We characterized blood transcriptional profiles in 60 subjects (20 unruptured BAVM, 20 ruptured BAVM, and 20 healthy controls) using Affymetrix whole genome expression arrays. Expression differences between groups were tested by ANOVA, adjusting for potential confounders. Genes with absolute fold change ≥1. 2 (false discovery rate corrected p ≤ 0. 1) were selected as differentially expressed and evaluated for over-representation in KEGG biological pathways (p ≤ 0. 05). Twenty-nine genes were differentially expressed between unruptured BAVM patients and controls, including 13 which may be predictive of BAVM. Patients with ruptured BAVM compared to unruptured BAVM differed in expression of 1,490 genes, with over-representation of genes in 8 pathways including MAPK, VEGF, Wnt signaling, and several inflammatory pathways. These results suggest clues to the pathogenesis of BAVM and/or BAVM rupture and point to potential biomarkers or new treatment targets.

Original languageEnglish (US)
Pages (from-to)575-587
Number of pages13
JournalTranslational Stroke Research
Issue number4
StatePublished - Dec 2011


  • Arteriovenous malformation
  • Blood
  • Gene expression
  • Intracranial hemorrhage
  • Microarray analysis

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)
  • Cardiology and Cardiovascular Medicine


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