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Cerebrovascular Aneurysms May Be Associated with Thrombophilia-predisposing Mutations in Patients with Familial Risk

Alexandros Andreou1, Constantinos Papapetrou2, Katerina Papadimitriou3

  • 1First 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.

In Vivo (Athens, Greece)
|May 16, 2015
PubMed

Insights

Certain thrombophilia mutations may influence intracranial aneurysm development, particularly in those with a family history. This study investigated genetic links to cerebrovascular disease.

Area of Science:

  • Genetics
  • Neurology
  • Vascular Biology

Background:

  • Cerebral aneurysm pathogenesis involves multiple risk factors.
  • Thrombophilia-predisposing mutations are implicated in vascular diseases.
  • Investigating genetic predispositions is crucial for understanding aneurysm formation.

Purpose of the Study:

  • To investigate the association between common thrombophilia-predisposing mutations and intracranial aneurysms.
  • To determine if specific genetic mutations increase the risk of developing cerebral aneurysms.
  • To analyze the prevalence of factor V Leiden, factor II G20210A, and MTHFR C677T mutations in patients with intracranial aneurysms.

Main Methods:

  • A cohort of 186 Greek individuals (66 patients with intracranial aneurysms, 120 healthy controls) was studied.
  • Genetic analysis was performed for three thrombophilia mutations: factor V Leiden, factor II G20210A, and MTHFR C677T.
  • Family history of thrombophilia and aneurysms was recorded for all participants.

Main Results:

  • No significant difference in mutant allelic frequencies was found between patients and healthy controls overall.
  • However, mutant allelic frequencies for factor V and factor II mutations were significantly elevated in patients with a positive family history of thrombophilia compared to controls (p≤0.003).
  • Genotypic distributions adhered to Hardy-Weinberg equilibrium, indicating a stable population.

Conclusions:

  • Specific thrombophilia-related mutations may contribute to the pathogenesis of intracranial aneurysms in a subset of the population.
  • A positive family history of thrombophilia appears to be a significant factor associated with increased prevalence of certain thrombophilia mutations in aneurysm patients.
  • Further research is warranted to elucidate the precise role of these genetic factors in cerebral aneurysm development.
Abstract

Keywords:
Cerebrovascular aneurysmsfamily historygene polymorphismsgenetic associationthrombophilia

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