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01-12-2011 | Original Article

Gene Expression Profiling of Blood in Brain Arteriovenous Malformation Patients

Authors: 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 P. Ander, Helen Kim, Frank R. Sharp, William L. Young

Published in: Translational Stroke Research | Issue 4/2011

Abstract

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.

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Title: Gene Expression Profiling of Blood in Brain Arteriovenous Malformation Patients
Authors: 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 P. Ander
Helen Kim
Frank R. Sharp
William L. Young
Publication date: 01-12-2011
Publisher: Springer-Verlag
Published in: Translational Stroke Research / Issue 4/2011
Print ISSN: 1868-4483
Electronic ISSN: 1868-601X
DOI: https://doi.org/10.1007/s12975-011-0103-3

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Gene Expression Profiling of Blood in Brain Arteriovenous Malformation Patients

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