Original Article

Polymorphisms of VEGFA gene and susceptibility to hemorrhage risk of brain arteriovenous malformations in a Chinese population

Authors: Zhi-ping Gong, Ni-dan Qiao, Yu-xiang Gu, Jian-ping Song, Pei-liang Li, Hui-jia Qiu, Wei-wei Fan, Ying Mao, Hong-yan Chen, Yao Zhao
DOI: 10.1038/aps.2011.76


Aim: To evaluate the influence of the vascular endothelial growth factor A (VEGFA) polymorphisms on risk of presentation with intracerebral hemorrhage (ICH).
Methods: Nine selected VEGFA single-nucleotide polymorphisms (SNPs) were genotyped in 311 patients with brain arteriovenous malformations (BAVM) in a Chinese population. Associations between individual SNPs/haplotypes and the hemorrhage risk of BAVMs were evaluated using logistic regression analysis.
Results: In the single-locus analysis, rs1547651 was associated with increased risk of ICH (adjusted OR=2.11, 95% CI=1.01–4.42 compared with the AA genotype). In particular, an increased risk for ICH was associated with this variant in female patients (adjusted OR=3.21, and 95% CI=0.99–10.36). Haplotype-based analyses revealed that haplotype ‘GC’ in block 1 and haplotype ‘ACC’ in block 2 were associated with a 30%–38% reduction in the risk of ICH in patients with BAVMs compared to the most common haplotype (Psim=0.033 and Psim=0.005, respectively). The protective effect of haplotype ‘ACC’ in block 2 was more evident in male patients and subjects with BAVMs of a size ≥3 cm (adjusted OR=0.57, 95% CI=0.34–0.97 and adjusted OR=0.57, 95% CI=0.31–0.86, respectively).
Conclusion: The results suggest that VEGFA gene variants may contribute to ICH risk of BAVM.

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