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Updated: Jun 13, 2025

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
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[Association Between Intracranial Aneurysms and Genes].

Hirofumi Nakatomi1

  • 1Department of Neurosurgery, Kyorin University School of Medicine.

No Shinkei Geka. Neurological Surgery
|September 17, 2024
PubMed
Summary

Family history is a key risk factor for ruptured intracranial aneurysms (IAs). This review explores genetic studies, including family-based and somatic gene mutation research, to understand IA development.

Area of Science:

  • Neuroscience
  • Genetics
  • Stroke Research

Background:

  • Aneurysmal subarachnoid hemorrhage (aSAH), caused by ruptured intracranial aneurysms (IAs), is a severe stroke type.
  • While age, sex, and alcohol are known risk factors, family history is increasingly recognized.
  • The exact developmental processes and pathologies of IAs, particularly familial cases, remain largely unknown.

Purpose of the Study:

  • To review recent genetic research on intracranial aneurysms.
  • To elucidate the role of familial factors and somatic gene mutations in IA development.
  • To consolidate findings from various genetic study designs.

Main Methods:

  • Review of family-based studies.
  • Analysis of genome-wide association studies (GWAS).

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  • Examination of sequencing data and somatic gene mutation studies.

    • Main Results:

    • Familial cerebral aneurysms represent 10% of all cases, suggesting a genetic component.
    • Somatic gene mutations are implicated in the development of IAs.
    • Recent genetic studies provide insights into the underlying mechanisms of IA formation.

    Conclusions:

    • Genetic factors, including familial predisposition and somatic mutations, play a significant role in the development of intracranial aneurysms.
    • Further research into these genetic aspects is crucial for understanding IA pathology.
    • This review highlights the importance of genetic investigations in aSAH research.