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

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 0R=2.11, 95% C1=1.01-4.42 compared with the AA genotype）o 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.