title: Cerebrovascular Aneurysms May Be Associated with Thrombophilia-predisposing Mutations in Patients with Familial Risk.
abstract: BACKGROUND
  Pathogenesis of cerebral aneurysms implicates several risk factors. Three common thrombophilia-predisposing mutations were studied in patients with cerebrovascular aneurysms.
  
  
  METHODS
  A total of 186 Greeks (66 patients with intracranial aneurysm and 120 healthy controls) were studied. Fifteen patients had a family history of thrombophilia, while two of them had a first-degree relative with an aneurysm. Genetic analysis for thrombophilia-predisposing mutations factor V Leiden, factor II (prothrombin) G20210A and methylenetetrahydrofolate reductase C677T was performed in all subjects.
  
  
  RESULTS
  Genotypic distributions and allelic frequencies were compatible with the Hardy-Weinberg equilibrium. There was no significant difference between healthy individuals and patients in mutant allelic frequencies of thrombophilia mutations. Nevertheless, the mutant allelic frequencies of factor V and II mutations were significantly increased in the sub-group of patients with a positive family history of thrombophilia compared to controls (p≤0.003).
  
  
  CONCLUSIONS
  Certain thrombophilia-related mutations may contribute to pathogenesis of intracranial aneurysms in a subset of the general population.
authors.affiliation: First Department of Neurology, University of Athens Medical School, Eginition Hospital, Athens, Greece Neuroendovascular Surgery and Interventional Neuroradiology Clinic, Department of Neurosurgery, "Hygeia" General Hospital, Athens, Greece.
authors.forename: Alexandros
authors.initials: A
authors.lastname: Andreou
authors.affiliation: Neuroendovascular Surgery and Interventional Neuroradiology Clinic, Department of Neurosurgery, "Hygeia" General Hospital, Athens, Greece.
authors.forename: Constantinos
authors.initials: C
authors.lastname: Papapetrou
authors.affiliation: Department of Molecular Genetics, "Cephalogenetics" Diagnostic Center, Athens, Greece.
authors.forename: Katerina
authors.initials: K
authors.lastname: Papadimitriou
authors.affiliation: Department of Oral and Maxillofacial Surgery, Evangelismos General Hospital, Athens, Greece.
authors.forename: Dimitris
authors.initials: D
authors.lastname: Avgoustidis
authors.affiliation: First Department of Neurology, University of Athens Medical School, Eginition Hospital, Athens, Greece Department of Molecular Genetics, "Cephalogenetics" Diagnostic Center, Athens, Greece cyapijakis_ua_gr@yahoo.com.
authors.forename: Christos
authors.initials: C
authors.lastname: Yapijakis
mesh_terms: D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D002532:Intracranial Aneurysm / Q000235:genetics*; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D011516:Prothrombin / Q000235:genetics*; D012306:Risk; D012307:Risk Factors; D019851:Thrombophilia / Q000235:genetics*; D055815:Young Adult
chemical_list: D011516:Prothrombin; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)
keywords: Cerebrovascular aneurysms; family history; gene polymorphisms; genetic association; thrombophilia