Evidence map›Paper›PMID 42554913›Full record

ArticleTranslational stroke research2026

The Impact of VEGFA rs2010963 on Bilaterality and Posterior Artery Stenosis in Patients with Moyamoya Disease.

Akikazu Nakamura, Hiroyuki Akagawa, Koji Yamaguchi, Kenko Azuma, Taichi Ishiguro, Takahiro Hori, Shuhei Morita, Yasuo Aihara, Sandra Vetiska, Ann Mansur and 4 more

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Article in Translational stroke research, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

14 authors.

Akikazu Nakamura *Department of Neurosurgery, Tokyo Women's Medical University, Tokyo, Japan.
Hiroyuki AkagawaInstitute for Comprehensive Medical Sciences, Tokyo Women's Medical University, Tokyo, Japan.
Koji YamaguchiDepartment of Neurosurgery, Tokyo Women's Medical University, Tokyo, Japan.
Kenko AzumaInstitute for Comprehensive Medical Sciences, Tokyo Women's Medical University, Tokyo, Japan.
Taichi IshiguroDepartment of Neurosurgery, Tokyo Women's Medical University Yachiyo Medical center, Chiba, Japan.
Takahiro HoriDepartment of Neurosurgery, Tokyo Women's Medical University, Tokyo, Japan.
Shuhei MoritaDepartment of Neurosurgery, Tokyo Women's Medical University, Tokyo, Japan.
Yasuo AiharaDepartment of Neurosurgery, Tokyo Women's Medical University, Tokyo, Japan.
Sandra VetiskaKrembil Brain Institute, University Health Network, University of Toronto, 60 Leonard Ave, Toronto, ON, M5T 0S8, Canada.
Ann MansurKrembil Brain Institute, University Health Network, University of Toronto, 60 Leonard Ave, Toronto, ON, M5T 0S8, Canada.
Ivan RadovanovicDivision of Neurosurgery, Sprott Department of Surgery, Toronto Western Hospital, University Health Network, Toronto, ON, Canada.
Akitsugu KawashimaDepartment of Neurosurgery, Tokyo Women's Medical University Yachiyo Medical center, Chiba, Japan.
Takakazu KawamataDepartment of Neurosurgery, Tokyo Women's Medical University, Tokyo, Japan.
Shunsuke Nomura *Department of Neurosurgery, Tokyo Women's Medical University, Tokyo, Japan. shunsukesn20@gmail.com.ORCID http://orcid.org/0000-0001-9032-7303

Funding

JSPS KAKENHI 21K16618
6 · The paper itself

Abstract

VEGFA plays a pivotal role in angiogenesis and is known to affect clinical phenotypes related to the vasculature in various diseases, such as cancer or stroke. However, it is still unclear how the VEGFA genotype influences the clinical phenotype of moyamoya disease (MMD). This study included 137 Japanese MMD patients (84 adult and 53 pediatric patients) carrying either the heterozygous RNF213 p.R4810K or the RNF213 wild-type genotypes. Patients with homozygous RNF213 p.R4810K genotype or the other rare RNF213 variants were excluded because these genotypes are already known to affect the clinical phenotype. After genotyping VEGFA rs2010963 (NM_001171623.2, c.-634G > C, also known as c.+405G > C), we statistically analyzed the genotype-phenotype correlation. Genotyping and clinical data collection were both blinded. 110 (80.3%) patients carried the heterozygous RNF213 p.R4810K genotype. For VEGFA rs2010963 genotypes, 36 (26.3%) patients had the G/G genotype, 86 (62.8%) had the C/G genotype, and 15 (10.9%) had the C/C genotype. In the subgroup analysis, the VEGFA rs2010963 C/G + C/C genotype was significantly associated with a higher incidence of bilaterality and PCA involvement in pediatric MMD patients (p = 0.032 and 0.0399, respectively). Furthermore, a multivariate regression analysis confirmed the significant association for them (p = 0.0391 and 0.0271, respectively). This genotype-phenotype association study suggests that the VEGFA rs2010963 CG + CC genotype may be associated with a higher rate of bilaterality and PCA stenosis in pediatric MMD patients, in addition to the well-known association of RNF213. These findings suggest that both RNF213 and VEGFA genotypes may be useful in the clinical assessment of MMD patients.

Indexed as

Moyamoya DiseaseVascular Endothelial Growth Factor AAdenosine TriphosphatasesAdolescentAdultChildChild, PreschoolConstriction, PathologicFemaleGenetic Association StudiesGenotypeHumansMaleMiddle AgedPolymorphism, Single NucleotideUbiquitin-Protein LigasesAdenosine TriphosphatasesRNF213 protein, humanUbiquitin-Protein LigasesVascular Endothelial Growth Factor AVEGFA protein, humanBilateralityGeneticsMoyamoya diseasePediatricsPhenotypePosterior artery stenosisRNF213VEGF

Identifiers

PMID42554913

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.