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

• Published in: Acta pharmacologica Sinica Vol. 32; no. 8; pp. 1071 - 1077
• Main Authors: Gong, Zhi-ping, Qiao, Ni-dan, Gu, Yu-xiang, Song, Jian-ping, Li, Pei-liang, Qiu, Hui-jia, Fan, Wei-wei, Mao, Ying, Chen, Hong-yan, Zhao, Yao
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 01.08.2011; Nature Publishing Group
• Subjects: Adult; Arteriovenous Fistula - genetics; Asian Continental Ancestry Group; Biomedical and Life Sciences; Biomedicine; Brain; Cerebral Hemorrhage - genetics; Female; Gene polymorphism; Genetic Predisposition to Disease; Guanylate cyclase; Haplotypes; Hemorrhage; Humans; Immunology; Internal Medicine; Intracranial Arteriovenous Malformations - genetics; Logistic回归分析; Male; Medical Microbiology; Original; original-article; Pharmacology/Toxicology; Polymorphism, Single Nucleotide; Regression analysis; Risk Factors; Single-nucleotide polymorphism; Vaccine; Vascular endothelial growth factor; Vascular Endothelial Growth Factor A - genetics; 中国人口; 动静脉畸形; 单核苷酸多态性; 基因分型; 脑出血; 非物质文化遗产; 风险; vascular endothelial growth factor A (VEGFA); brain arteriovenous malformations; single-nucleotide polymorphism (SNPs); cerebral hemorrhage
• ISSN: 1671-4083; 1745-7254; 1745-7254
• 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 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.