Genetic factors involves in intracranial aneurysms--actualities

Area of Science:

• Neuroscience
• Genetics
• Vascular Biology

Background:

• Intracranial aneurysm (IA) is a prevalent vascular disorder often leading to subarachnoid hemorrhage (SAH).
• While acquired risk factors are known, heritable conditions contribute to IA formation in less than 1% of cases.
• IA pathogenesis involves hemodynamic and genetic factors, leading to arterial wall weakness, potentially triggered during arterial growth or aging.

Purpose of the Study:

• To investigate the genetic and environmental factors contributing to intracranial aneurysm development.
• To understand the differences between familial intracranial aneurysms (FIA) and sporadic intracranial aneurysms (sIAs).

Main Methods:

• Review of existing literature on IA pathogenesis.
• Analysis of genetic associations, including chromosomal variants (e.g., 8q, 9p) and their interaction with environmental factors like smoking.
• Comparison of characteristics between familial and sporadic IA cases.

Main Results:

• Genetic variants on chromosomes 8q and 9p are associated with increased IA risk.
• Cigarette smoking significantly elevates IA risk in individuals with these genetic variants.
• Familial IA cases are generally larger, more frequently located in the middle cerebral artery, and more likely to be multiple compared to sporadic IA.

Conclusions:

• Both genetic predisposition and acquired factors, such as smoking, play crucial roles in intracranial aneurysm development.
• Understanding these factors is vital for risk assessment and potential therapeutic strategies.
• Familial intracranial aneurysms present distinct clinical and pathological characteristics compared to sporadic forms.