title: Replication Study of Polymorphisms Associated With Brain Arteriovenous Malformation in a Population From South of Brazil.
abstract: BACKGROUND
  The aim of this study was to reproducibly determine if any of the polymorphisms were associated with the susceptibility to brain arteriovenous malformations (BAVM) or the risk of intracranial hemorrhage (ICH) presentation.
  
  
  METHODS
  We recruited 63 BAVM patients and 96 controls. The polymorphisms selected for evaluation were apolipoprotein E (APOE), tumor necrosis factor alpha (TNF 238G>A - rs361525), interleukin 1 beta (IL1B 511C>T - rs16944 and IL1B -31T>C - rs1143627), activin-like kinase 1 (ACVRL1 IVS3-35A>G - rs2071219), endoglin (ENG 207G>A - rs11545664), and interleukin 6 (IL6 174G>C - rs1800795).
  
  
  RESULTS
  In the single analysis, we observed statistically signiﬁcant differences in the allele distributions for IL1B -31T>C (rs1143627) between the BAVM patients and control subjects (P = 0.02). There was a trend toward significance for the association between the IL1B 511C>T (rs16944) allele and BAVM risk (P = 0.07). In further logistic regression analysis, no polymorphism was significantly associated with the risk of BAVM. No polymorphisms were associated with hemorrhage presentation according to both single and multivariable analyses.
  
  
  CONCLUSIONS
  In our sample from a south Brazil population, we found no association between the risks of BAVM and ICH presentation with any of the selected polymorphisms.
authors.affiliation: Neurosurgery, Hospital Mãe de Deus - Porto Alegre - Brazil; Hospital Dom João Becker - Gravataí - Brazil.
authors.forename: André Cerutti
authors.initials: AC
authors.lastname: Franciscatto
authors.affiliation: Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul.
authors.forename: Fernanda S
authors.initials: FS
authors.lastname: Ludwig
authors.affiliation: Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul.
authors.forename: Ursula S
authors.initials: US
authors.lastname: Matte
authors.affiliation: Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul.
authors.forename: Simone
authors.initials: S
authors.lastname: Mota
authors.affiliation: Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul.
authors.forename: Marco A
authors.initials: MA
authors.lastname: Stefani
keywords: activine-like kinase 1; apolipoprotein e; brain arteriovenous malformation; endoglin; interleukin 1 beta; interleukin 6; single nucleotide polymorphisms; tumor necrosis factor alpha