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Stroke Res."],"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:p>Robust postoperative bypass development is a characteristic of moyamoya disease (MMD); however, genetic factors mediating this phenomenon remain incompletely understood. Therefore, we aimed to elucidate the relationship between postoperative donor artery development and genetic variants. We retrospectively enrolled 63 patients (79 hemispheres) who underwent combined revascularization surgery. Postoperative development of the superficial temporal artery (STA), middle meningeal artery, and deep temporal artery (DTA) was assessed using the caliber-change ratio determined from magnetic resonance angiography measurements. We analyzed <jats:italic>RNF213<\/jats:italic> and 36 other moyamoya angiopathy-related genes by whole-exome sequencing and extracted rare or damaging variants. Thirty-five participants carried <jats:italic>RNF213<\/jats:italic> p.Arg4810Lys (all heterozygotes), whereas 5 had <jats:italic>RNF213<\/jats:italic> rare variants (RVs). p.Arg4810Lys was significantly associated with postoperative DTA development, while age at surgery, hypertension, and hyperlipidemia were inversely associated. Multiple regression analysis revealed that age and p.Arg4810Lys held statistical significance (<jats:italic>P<\/jats:italic>\u2009=\u20090.044, coefficient\u2009\u2212\u20090.015, 95% confidence interval (CI)\u2009\u2212\u20090.029 to 0.000 and <jats:italic>P<\/jats:italic>\u2009=\u20090.001, coefficient 0.670, 95% CI 0.269 to 1.072, respectively). Those with <jats:italic>RNF213<\/jats:italic> RV without p.Arg4810Lys exhibited a significant trend toward poor DTA development (<jats:italic>P<\/jats:italic>\u2009=\u20090.001). Hypertension demonstrated a significant positive association with STA development, which remained significant even after multiple regression analysis (<jats:italic>P<\/jats:italic>\u2009=\u20090.001, coefficient 0.303, 95% CI 0.123 to 0.482). Following Bonferroni correction for multiple comparisons, targeted analyses of <jats:italic>RNF213<\/jats:italic> and 36 moyamoya angiopathy-related genes showed a significant association of only <jats:italic>RNF213<\/jats:italic> p.Arg4810Lys with favorable DTA development (<jats:italic>P<\/jats:italic>\u2009=\u20090.001). A comprehensive analysis of <jats:italic>RNF213<\/jats:italic>, considering both p.Arg4810Lys and RVs, may provide a clearer prediction of postoperative DTA development.<\/jats:p>","DOI":"10.1007\/s12975-024-01248-7","type":"journal-article","created":{"date-parts":[[2024,4,9]],"date-time":"2024-04-09T11:01:56Z","timestamp":1712660516000},"page":"679-689","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Association of Genetic Variants with Postoperative Donor Artery Development in Moyamoya Disease: RNF213 and Other Moyamoya Angiopathy-Related Gene Analysis"],"prefix":"10.1007","volume":"16","author":[{"given":"Seiei","family":"Torazawa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"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":"Hiroki","family":"Hongo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideaki","family":"Ono","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shotaro","family":"Ogawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Sakai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoshi","family":"Kiyofuji","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoshi","family":"Koizumi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daisuke","family":"Komura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroto","family":"Katoh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shumpei","family":"Ishikawa","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":[[2024,4,9]]},"reference":[{"key":"1248_CR1","doi-asserted-by":"publisher","first-page":"1056","DOI":"10.1016\/S1474-4422(08)70240-0","volume":"7","author":"S Kuroda","year":"2008","unstructured":"Kuroda S, Houkin K. Moyamoya disease: current concepts and future perspectives. Lancet Neurol. 2008;7:1056\u201366. https:\/\/doi.org\/10.1016\/S1474-4422(08)70240-0.","journal-title":"Lancet Neurol"},{"key":"1248_CR2","doi-asserted-by":"publisher","first-page":"1226","DOI":"10.1056\/NEJMra0804622","volume":"360","author":"RM Scott","year":"2009","unstructured":"Scott RM, Smith ER. Moyamoya disease and Moyamoya syndrome. N Engl J Med. 2009;360:1226\u201337. https:\/\/doi.org\/10.1056\/NEJMra0804622.","journal-title":"N Engl J Med"},{"key":"1248_CR3","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1007\/s007010050035","volume":"142","author":"K Houkin","year":"2000","unstructured":"Houkin K, Kuroda S, Ishikawa T, Abe H. Neovascularization (angiogenesis) after revascularization in Moyamoya disease. Which technique is most useful for moyamoya disease? 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Am J Hum Genet. 2011;88:718\u201328. https:\/\/doi.org\/10.1016\/j.ajhg.2011.04.017.","journal-title":"Am J Hum Genet"},{"key":"1248_CR31","doi-asserted-by":"publisher","unstructured":"Pinard A, Ye W, Fraser SM, Rosenfeld JA, Pichurin P, Hickey SE, Guo D, Cecchi AC, Boerio ML, Guey S, Aloui C, Lee K, Kraemer M, Alyemni SO; University of Washington Center for Mendelian Genomics; Bamshad MJ, Nickerson DA, Tournier-Lasserve E, Haider S, Jin SC, Smith ER, Kahle KT, Jan LY, He M, Milewicz DM. Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease. Brain. 2023;146:3616\u201323. https:\/\/doi.org\/10.1093\/brain\/awad172.","DOI":"10.1093\/brain\/awad172"}],"container-title":["Translational Stroke Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12975-024-01248-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12975-024-01248-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12975-024-01248-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,1]],"date-time":"2025-05-01T03:41:33Z","timestamp":1746070893000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12975-024-01248-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4,9]]},"references-count":31,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,6]]}},"alternative-id":["1248"],"URL":"https:\/\/doi.org\/10.1007\/s12975-024-01248-7","relation":{},"ISSN":["1868-4483","1868-601X"],"issn-type":[{"value":"1868-4483","type":"print"},{"value":"1868-601X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,4,9]]},"assertion":[{"value":"31 January 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 March 2024","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"31 March 2024","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 April 2024","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was approved by the research board of our institution (approval number: G10026; approval date: September 12, 2011). This study was performed in accordance with the ethical standards as laid down in the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics Approval"}},{"value":"Written informed consent was obtained from all participants or the legal guardians of patients aged\u2009<\u200918 years.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to Participate"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing Interests"}}]}}