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<p><i>VEGFA</i> 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 <i>VEGFA</i> 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 <i>RNF213</i> p.R4810K or the <i>RNF213</i> wild-type genotypes. Patients with homozygous <i>RNF213</i> p.R4810K genotype or the other rare <i>RNF213</i> variants were excluded because these genotypes are already known to affect the clinical phenotype. After genotyping <i>VEGFA</i> rs2010963 (NM_001171623.2, c.-634G &gt; C, also known as c.+405G &gt; C), we statistically analyzed the genotype-phenotype correlation. Genotyping and clinical data collection were both blinded. 110 (80.3%) patients carried the heterozygous <i>RNF213</i> p.R4810K genotype. For <i>VEGFA</i> 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 <i>VEGFA</i> rs2010963 C/G + C/C genotype was significantly associated with a higher incidence of bilaterality and PCA involvement in pediatric MMD patients (<i>p</i> = 0.032 and 0.0399, respectively). Furthermore, a multivariate regression analysis confirmed the significant association for them (<i>p</i> = 0.0391 and 0.0271, respectively). This genotype–phenotype association study suggests that the <i>VEGFA</i> 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 <i>RNF213</i>. These findings suggest that both <i>RNF213</i> and <i>VEGFA</i> genotypes may be useful in the clinical assessment of MMD patients.</p>

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

  • 期刊论文

  • 发表日期：

    2026年8月5日

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  • Akikazu Nakamura,
  • Hiroyuki Akagawa,
  • Koji Yamaguchi,
  • Kenko Azuma,
  • Taichi Ishiguro,
  • Takahiro Hori,
  • Shuhei Morita,
  • Yasuo Aihara,
  • Sandra Vetiska,
  • Ann Mansur,
  • Ivan Radovanovic,
  • Akitsugu Kawashima,
  • Takakazu Kawamata,
  • Shunsuke Nomura

摘要

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.