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Peer-reviewedCC BY-NCJournal of stroke

Intracranial Vessel Morphology in RNF213-Related Vasculopathy: A Quantitative Imaging Study in Ischemic Stroke Patients.

  • I Joon Han1
  • Hyung Jun Kim2
  • Hyun Kyung Kim2
  • Ha-Na Song2
  • Seong-Hoon Lee2
  • Yun-Hwa Ha2
  • In-Young Baek2
  • Ji-Eun Lee2
  • Seongvin Ju3
  • Jong-Won Chung2
  • Gyeong-Moon Kim2
  • Oh Young Bang4
1 more authors
  • Woo-Keun Seo5,6,7
7 affiliations
  1. 1Office of Education and Human Resources Development, Samsung Medical Center, Seoul, Korea.
  2. 2Department of Neurology and Stroke Center, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
  3. 3Department of Digital Health, Samsung Advanced Institute for Health Sciences & Technology, Sungkyunkwan University, Seoul, Korea.
  4. 4Department of Neurology and Stroke Center, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. [email protected].
  5. 5Department of Neurology and Stroke Center, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. [email protected].
  6. 6Department of Digital Health, Samsung Advanced Institute for Health Sciences & Technology, Sungkyunkwan University, Seoul, Korea. [email protected].
  7. 7URGENT Inc., Seoul, Korea. [email protected].
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Abstract

Background and purpose

The RNF213 p.R4810K variant is a major susceptibility allele for moyamoya disease (MMD) in East Asians. This study investigated the relationship between RNF213 variants and intracranial vessel morphology in acute ischemic stroke.Methods

Patients from the Samsung Medical Center (SMC) Stroke Registry (2017-2019) were included. Quantitative vessel features were extracted from magnetic resonance angiography, including the basal global tortuosity index (GTIb), internal carotid artery (ICA) area, and basal minimum-to-maximum diameter ratio (MMRb). Genome-wide association analyses of GTIb, ICA area, and MMRb were performed (n=945). Validation was conducted in an independent Korea University Medical Center (KUMC) cohort. Groupwise comparisons were performed across three predefined groups: MMD+/variant+, MMD-/variant+, and MMD-/variant-. Adjusted linear regressions for ICA area were performed. Receiver operating characteristic (ROC) analyses evaluated GTIb, ICA area, and a combined model for identifying RNF213 carriers.Results

GTIb and ICA area showed genome-wide significance at the RNF213 locus (p.R4810K), whereas MMRb did not. In the KUMC cohort, ICA area differed between variant+ and variant-groups, while GTIb and MMRb did not. Across SMC groups (MMD+/variant+ [n=14], MMD-/variant+ [n=37], MMD-/variant- [n=888]), GTIb was highest and ICA area and MMRb smallest in MMD+/variant+, intermediate in MMD-/variant+, and lowest/largest in MMD-/variant- (P<0.001). ICA area differences remained significant after multivariable adjustment. In ROC analyses, ICA area provided significant incremental discrimination beyond clinical variables.Conclusions

The RNF213 variant was consistently associated with smaller ICA area in patients with ischemic stroke. The association with intracranial tortuosity was not reproduced in the validation cohort.

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Cite

BibTeXRIS
BibTeX
@article{han2026intracranial,
  title = {{Intracranial Vessel Morphology in RNF213-Related Vasculopathy: A Quantitative Imaging Study in Ischemic Stroke Patients.}},
  author = {I Joon Han and Hyung Jun Kim and Hyun Kyung Kim and Ha-Na Song and Seong-Hoon Lee and Yun-Hwa Ha and In-Young Baek and Ji-Eun Lee and Seongvin Ju and Jong-Won Chung and Gyeong-Moon Kim and Oh Young Bang and Woo-Keun Seo},
  journal = {Journal of stroke},
  year = {2026},
  month = sep,
  doi = {10.5853/jos.2025.06282},
  url = {https://europepmc.org/article/MED/42894451},
  note = {CC BY-NC},
}
RIS
TY  - JOUR
TI  - Intracranial Vessel Morphology in RNF213-Related Vasculopathy: A Quantitative Imaging Study in Ischemic Stroke Patients.
AU  - I Joon Han
AU  - Hyung Jun Kim
AU  - Hyun Kyung Kim
AU  - Ha-Na Song
AU  - Seong-Hoon Lee
AU  - Yun-Hwa Ha
AU  - In-Young Baek
AU  - Ji-Eun Lee
AU  - Seongvin Ju
AU  - Jong-Won Chung
AU  - Gyeong-Moon Kim
AU  - Oh Young Bang
AU  - Woo-Keun Seo
PY  - 2026
DA  - 2026/09/30
JO  - Journal of stroke
DO  - 10.5853/jos.2025.06282
UR  - https://europepmc.org/article/MED/42894451
AB  - Background and purpose  The RNF213 p.R4810K variant is a major susceptibility allele for moyamoya disease (MMD) in East Asians. This study investigated the relationship between RNF213 variants and intracranial vessel morphology in acute ischemic stroke.Methods  Patients from the Samsung Medical Center (SMC) Stroke Registry (2017-2019) were included. Quantitative vessel features were extracted from magnetic resonance angiography, including the basal global tortuosity index (GTIb), internal carotid artery (ICA) area, and basal minimum-to-maximum diameter ratio (MMRb). Genome-wide association analyses of GTIb, ICA area, and MMRb were performed (n=945). Validation was conducted in an independent Korea University Medical Center (KUMC) cohort. Groupwise comparisons were performed across three predefined groups: MMD+/variant+, MMD-/variant+, and MMD-/variant-. Adjusted linear regressions for ICA area were performed. Receiver operating characteristic (ROC) analyses evaluated GTIb, ICA area, and a combined model for identifying RNF213 carriers.Results  GTIb and ICA area showed genome-wide significance at the RNF213 locus (p.R4810K), whereas MMRb did not. In the KUMC cohort, ICA area differed between variant+ and variant-groups, while GTIb and MMRb did not. Across SMC groups (MMD+/variant+ [n=14], MMD-/variant+ [n=37], MMD-/variant- [n=888]), GTIb was highest and ICA area and MMRb smallest in MMD+/variant+, intermediate in MMD-/variant+, and lowest/largest in MMD-/variant- (P<0.001). ICA area differences remained significant after multivariable adjustment. In ROC analyses, ICA area provided significant incremental discrimination beyond clinical variables.Conclusions  The RNF213 variant was consistently associated with smaller ICA area in patients with ischemic stroke. The association with intracranial tortuosity was not reproduced in the validation cohort.
SN  - 2287-6391
SN  - 2287-6405
ER  -