Rare genetic variants in <i>PKD1</i> and <i>SMAD2</i> are associated with intracranial aneurysms in the general population
Ultrarare damaging variants in <i>PKD1</i>, a gene causing autosomal dominant polycystic kidney disease, and <i>SMAD2</i>, a gene causing Loeys-Dietz syndrome, were associated with IA in the general population, even in the absence of a diagnosis of these disorders. Our results may contribute to the development of genetic screening methods for IA in a clinical setting.
Authors
- Mark K. Bakker (ORCID: https://orcid.org/0000-0002-7887-9014)
- Ynte M. Ruigrok (ORCID: https://orcid.org/0000-0002-5396-2989)
- Kristiina Rannikmäe (ORCID: https://orcid.org/0000-0002-2384-7568)
- Paul J. Hop (ORCID: https://orcid.org/0000-0002-9007-7436)
- B. Wolters
Institutions
- Utrecht University (NL)
- University Medical Center Utrecht (NL)
- University of Edinburgh (GB)
Publication Details
- Journal
- International Journal of Stroke
- Published
- 2025-04-02
- DOI
- https://doi.org/10.1177/17474930251334501
- Citations
- 2
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 3.63
Funders
- Hartstichting
- European Research Council