Genetic epidemiology of moyamoya disease and CADASIL in over 120,000 healthy Korean individuals: Insights into cerebrovascular disorders
This large-scale study highlights the substantial genetic burden of RNF213 and NOTCH3 variants in Koreans, which partially contributes to the high stroke burden in East Asia. These findings emphasize the importance of population-specific genetic studies to optimize cerebrovascular disorder management in East Asia.
Authors
- Myoungkeun Lee
- Mi‐Ae Jang (ORCID: https://orcid.org/0000-0002-6558-5236)
- Chang Ahn Seol (ORCID: https://orcid.org/0000-0001-8470-7633)
- Chang‐Seok Ki (ORCID: https://orcid.org/0000-0001-7679-8731)
- Eun Hye Cho (ORCID: https://orcid.org/0000-0002-9328-9389)
Institutions
- Yong In University (KR)
- Samsung Medical Center (KR)
- Genome and Company (South Korea) (KR)
- Kangbuk Samsung Hospital (KR)
- Sungkyunkwan University (KR)
Publication Details
- Journal
- PLoS ONE
- Published
- 2025-09-22
- DOI
- https://doi.org/10.1371/journal.pone.0331174
- Primary Topic
- Cerebrovascular and genetic disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00