title: Polymorphisms of VEGFA gene and susceptibility to hemorrhage risk of brain arteriovenous malformations in a Chinese population.
abstract: OBJECTIVE
  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 (P(sim)=0.033 and P(sim)=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).
  
  
  CONCLUSIONS
  The results suggest that VEGFA gene variants may contribute to ICH risk of BAVM.
authors.affiliation: Operation Room, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China.
authors.forename: Zhi-ping
authors.initials: ZP
authors.lastname: Gong
authors.forename: Ni-dan
authors.initials: ND
authors.lastname: Qiao
authors.forename: Yu-xiang
authors.initials: YX
authors.lastname: Gu
authors.forename: Jian-ping
authors.initials: JP
authors.lastname: Song
authors.forename: Pei-liang
authors.initials: PL
authors.lastname: Li
authors.forename: Hui-jia
authors.initials: HJ
authors.lastname: Qiu
authors.forename: Wei-wei
authors.initials: WW
authors.lastname: Fan
authors.forename: Ying
authors.initials: Y
authors.lastname: Mao
authors.forename: Hong-yan
authors.initials: HY
authors.lastname: Chen
authors.forename: Yao
authors.initials: Y
authors.lastname: Zhao
mesh_terms: D000328:Adult; D001164:Arteriovenous Fistula / Q000235:genetics*; D044466:Asian People; D002543:Cerebral Hemorrhage / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D002538:Intracranial Arteriovenous Malformations / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D042461:Vascular Endothelial Growth Factor A / Q000235:genetics*
chemical_list: C467484:VEGFA protein, human; D042461:Vascular Endothelial Growth Factor A