Scholarlink

<p>Postoperative regression of periventricular anastomosis (PA) may have important implications for preventing hemorrhagic events in patients with moyamoya disease (MMD). We aimed to identify the genetic factors associated with postoperative PA regression. This retrospective cohort study enrolled 81 patients (102 hemispheres) who underwent combined revascularization surgery. PA types (lenticulostriate, choroidal, and thalamic) were scored from 0 to 2 preoperatively and postoperatively using magnetic resonance angiography, and postoperative regression was evaluated. We extracted all exonic variants in <i>RNF213</i> and analyzed differences in their effects on PA regression between the p.Arg4810Lys variant and other <i>RNF213</i> variants. Among the 81 participants, 51 (63.0%) carried p.Arg4810Lys (all heterozygotes: GA group), whereas 20 (24.5%) harbored other rare or damaging <i>RNF213</i> variants (GG with other variants group). All types of PA regressed significantly in the GA group (<i>P</i> &lt; 0.001 for all), whereas only choroidal PA showed significant regression in the GG with other variants group (<i>P</i> = 0.024). The postoperative decrease in choroidal PA score was greater in the GG with other variants group than in the GA group (<i>P</i> = 0.058). Multivariate analysis using linear mixed-effect models suggested a potential association between choroidal PA score reduction and two factors: the GG genotype with other variants and age &lt; 16&#xa0;years. Our findings indicate that harboring <i>RNF213</i> variants other than p.Arg4810Lys may be associated with greater regression of choroidal PA compared with harboring p.Arg4810Lys in this exploratory cohort. Comprehensive genetic analysis of <i>RNF213</i> may enable more accurate prediction of the surgical preventive effect on hemorrhagic events in MMD.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Impact of genetic profiles on periventricular anastomosis following bypass surgery in moyamoya disease

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年4月20日

查看全文
  • Seiei Torazawa,
  • Satoru Miyawaki,
  • Hideaki Imai,
  • Hiroki Hongo,
  • Masahiro Shimizu,
  • Hideaki Ono,
  • Shotaro Ogawa,
  • Yu Sakai,
  • Satoshi Kiyofuji,
  • Satoshi Koizumi,
  • Daisuke Komura,
  • Hiroto Katoh,
  • Shumpei Ishikawa,
  • Nobuhito Saito

摘要

Postoperative regression of periventricular anastomosis (PA) may have important implications for preventing hemorrhagic events in patients with moyamoya disease (MMD). We aimed to identify the genetic factors associated with postoperative PA regression. This retrospective cohort study enrolled 81 patients (102 hemispheres) who underwent combined revascularization surgery. PA types (lenticulostriate, choroidal, and thalamic) were scored from 0 to 2 preoperatively and postoperatively using magnetic resonance angiography, and postoperative regression was evaluated. We extracted all exonic variants in RNF213 and analyzed differences in their effects on PA regression between the p.Arg4810Lys variant and other RNF213 variants. Among the 81 participants, 51 (63.0%) carried p.Arg4810Lys (all heterozygotes: GA group), whereas 20 (24.5%) harbored other rare or damaging RNF213 variants (GG with other variants group). All types of PA regressed significantly in the GA group (P < 0.001 for all), whereas only choroidal PA showed significant regression in the GG with other variants group (P = 0.024). The postoperative decrease in choroidal PA score was greater in the GG with other variants group than in the GA group (P = 0.058). Multivariate analysis using linear mixed-effect models suggested a potential association between choroidal PA score reduction and two factors: the GG genotype with other variants and age < 16 years. Our findings indicate that harboring RNF213 variants other than p.Arg4810Lys may be associated with greater regression of choroidal PA compared with harboring p.Arg4810Lys in this exploratory cohort. Comprehensive genetic analysis of RNF213 may enable more accurate prediction of the surgical preventive effect on hemorrhagic events in MMD.