Human brain arteriovenous malformation (BAVM) tissue contains increased levels of vascular endothelial growth factor A (VEGFA). We carried out a case-control study to determine whether polymorphisms in the VEGFA gene are associated with sporadic BAVM. Nine selected VEGFA single-nucleotide polymorphisms (SNP) were genotyped in 319 patients with BAVM and 333 controls from a Chinese population using the MassARRAY genotyping system. We found four single variants in the VEGFA gene (rs1547651, rs2010963, rs833069 and rs3025010), with one haplotype, ACT, possibly associated with the risk of developing BAVM. © 2010 Elsevier Ltd. All rights reserved.
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Chen, H., Gu, Y., Wu, W., Chen, D., Li, P., Fan, W., … Zhao, Y. (2011). Polymorphisms of the vascular endothelial growth factor A gene and susceptibility to sporadic brain arteriovenous malformation in a Chinese population. Journal of Clinical Neuroscience, 18(4), 549–553. https://doi.org/10.1016/j.jocn.2010.08.025