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Stroke Res."],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:p>Intracranial artery stenosis (ICAS) is a significant contributor to ischemic stroke, with the <jats:italic>RNF213<\/jats:italic> p.Arg4810Lys variant identified as a related genetic factor. We explored the clinical outcomes of the <jats:italic>RNF213<\/jats:italic> genotype in patients with asymptomatic ICAS. Between November 2011 and March 2019, 139 patients with asymptomatic ICAS were enrolled in this study. Genotyping for <jats:italic>RNF213<\/jats:italic> p.Arg4810Lys was performed using Sanger sequencing. A comprehensive analysis was conducted to compare the <jats:italic>RNF213<\/jats:italic> genotype with background characteristics and clinical outcomes such as ipsilateral ischemic cerebrovascular events and stenosis progression. <jats:italic>RNF213<\/jats:italic> p.Arg4810Lys was found in 25% of cases, revealing distinct clinical features between carriers and non-carriers. The incidence of ipsilateral ischemic cerebrovascular events was 4.3% (6\/139 cases), and stenosis progression was observed in 13% (18\/139 cases) during a mean follow-up period of 58\u00a0months. Stenosis progression rates were notably higher in the <jats:italic>RNF213<\/jats:italic> variant group (25.7%; 9\/35 cases) than in the <jats:italic>RNF213<\/jats:italic> wild-type group (8.7%; 9\/104 cases). Cumulative stenosis progression rate was significantly higher in the <jats:italic>RNF213<\/jats:italic> variant group than in the <jats:italic>RNF213<\/jats:italic> wild-type group (log-rank test, <jats:italic>P<\/jats:italic>\u2009=\u20090.0004). Multivariate Cox regression analysis indicated a significant association between the <jats:italic>RNF213<\/jats:italic> p.Arg4810Lys variant and an increased risk of stenosis progression (<jats:italic>P<\/jats:italic>\u2009=\u20090.03, odds ratio 3.2; 95% confidence interval, 1.1\u20139.0). The <jats:italic>RNF213<\/jats:italic> p.Arg4810Lys variant exhibits clinical disparities in asymptomatic ICAS and is notably linked to a heightened risk of stenosis progression. These results suggest a distinct difference in the vascular stenosis mechanism associated with this variant, warranting further investigation into its clinical implications and potential mechanistic insights.<\/jats:p>","DOI":"10.1007\/s12975-024-01309-x","type":"journal-article","created":{"date-parts":[[2024,11,12]],"date-time":"2024-11-12T04:22:07Z","timestamp":1731385327000},"page":"1293-1300","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["RNF213 p.Arg4810Lys Variant Is Associated with Higher Stenosis Progression in Asymptomatic Intracranial Artery Stenosis"],"prefix":"10.1007","volume":"16","author":[{"given":"Shogo","family":"Dofuku","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6369-3391","authenticated-orcid":false,"given":"Satoru","family":"Miyawaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideaki","family":"Imai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masahiro","family":"Shimizu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroki","family":"Hongo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuki","family":"Shinya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenta","family":"Ohara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Teranishi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideaki","family":"Ono","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirofumi","family":"Nakatomi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akira","family":"Teraoka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuhito","family":"Saito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,11,12]]},"reference":[{"key":"1309_CR1","doi-asserted-by":"publisher","first-page":"502","DOI":"10.1161\/CIRCRESAHA.116.308441","volume":"120","author":"C Banerjee","year":"2017","unstructured":"Banerjee C, Chimowitz MI. 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The Ethical Committee of the University of Tokyo approved this study (approval number, G10026; approval date, September 12, 2011). The research conducted in our manuscript adheres to ethical guidelines outlined in the Declaration of Helsinki.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics Approval"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}}]}}