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Updated: Apr 17, 2026

A Murine Model of Carotid Aneurysm Formation
Published on: September 9, 2025
Genetic study of intracranial aneurysms
Junxia Yan1, Toshiaki Hitomi1, Katsunobu Takenaka1
1From the Department of Epidemiology and Health Statistics, School of Public Health, Central South University, Hunan, China (J.Y.); Department of Health and Environmental Sciences, Graduate School of Medicine, Kyoto University, Kyoto, Japan (J.Y., H.K., H.O., T.H., K.H.H, A.K.); and Department of Neurosurgery, Takayama Red Cross Hospital, Takayama, Japan (K.T., M.K.).
Genetic analysis identified ADAMTS15 as a potential susceptibility gene for intracranial aneurysms (IAs). This finding is crucial for understanding IA development and informing prevention strategies.
Area of Science:
- Genetics
- Neurosurgery
- Molecular Biology
Background:
- Intracranial aneurysms (IAs) can cause subarachnoid hemorrhage, leading to severe outcomes.
- Identifying genetic factors is vital for IA prevention and treatment.
Purpose of the Study:
- To identify susceptibility genes for intracranial aneurysms (IAs).
Main Methods:
- Exome sequencing in 12 families with multiple IA cases (42 individuals).
- Filtering strategies to select candidate variants.
- Replicate association studies in 24 additional IA families and 426 sporadic IA cases.
- Functional analysis of identified mutations.
Main Results:
- 78 variants from 9 genes were initially selected based on frequency, co-segregation, and predicted protein damage.
- The p.E133Q variant in ADAMTS15 showed significant aggregation in familial IA cases (P=0.0001).
- Functional studies indicated ADAMTS15 may possess antiangiogenic properties.
Conclusions:
- ADAMTS15 is identified as a candidate gene associated with intracranial aneurysms.
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