{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T11:42:10Z","timestamp":1781091730962,"version":"3.54.1"},"reference-count":22,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2021,9,23]],"date-time":"2021-09-23T00:00:00Z","timestamp":1632355200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>A mutation in RNF213 (c.14576G&gt;A), a gene associated with moyamoya disease (&gt;80%), plays a role in terminal internal carotid artery (ICA) stenosis (&gt;15%) (ICS). Studies on RNF213 and cerebral aneurysms (AN), which did not focus on the site of origin or morphology, could not elucidate the relationship between the two. However, a report suggested a relationship between RNF213 and AN in French-Canadians. Here, we investigated the relationship between ICA saccular aneurysm (ICA-AN) and RNF213. We analyzed RNF213 expression in subjects with ICA-AN and atherosclerotic ICS. Cases with a family history of moyamoya disease were excluded. AN smaller than 4 mm were confirmed as AN only by surgical or angiographic findings. RNF213 was detected in 12.2% of patients with ICA-AN and 13.6% of patients with ICS; patients with ICA-AN and ICS had a similar risk of RNF213 mutation expression (odds ratio, 0.884; 95% confidence interval, 0.199\u20133.91; p = 0.871). The relationship between ICA-AN and RNF213 (c.14576G&gt;A) was not correlated with the location of the ICA and bifurcation, presence of rupture, or multiplicity. When the etiology and location of AN were more restricted, the incidence of RNF213 mutations in ICA-AN was higher than that reported in previous studies. Our results suggest that strict maternal vessel selection and pathological selection of AN morphology may reveal an association between genetic mutations and ICA-AN development. The results of this study may form a basis for further research on systemic vascular diseases, in which the RNF213 (c.14576G&gt;A) mutation has been implicated.<\/jats:p>","DOI":"10.3390\/genes12101468","type":"journal-article","created":{"date-parts":[[2021,9,23]],"date-time":"2021-09-23T09:59:15Z","timestamp":1632391155000},"page":"1468","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["RNF213 c.14576G&gt;A Is Associated with Intracranial Internal Carotid Artery Saccular Aneurysms"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9753-1873","authenticated-orcid":false,"given":"Yasuo","family":"Murai","sequence":"first","affiliation":[{"name":"Department of Neurological Surgery, Nippon Medical School, Bunkyo-ku, Tokyo 1138603, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0806-989X","authenticated-orcid":false,"given":"Eitaro","family":"Ishisaka","sequence":"additional","affiliation":[{"name":"Department of Neurological Surgery, Nippon Medical School, Bunkyo-ku, Tokyo 1138603, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsushi","family":"Watanabe","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Kanazawa University Hospital, Kanazawa 9208640, Japan"},{"name":"Support Center for Genetic Medicine, Kanazawa University Hospital, Kanazawa 9208640, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tetsuro","family":"Sekine","sequence":"additional","affiliation":[{"name":"Department of Radiology, Nippon Medical School Musashi-Kosugi Hospital, Kanagawa 2118533, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazutaka","family":"Shirokane","sequence":"additional","affiliation":[{"name":"Department of Neurological Surgery, Nippon Medical School, Bunkyo-ku, Tokyo 1138603, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fumihiro","family":"Matano","sequence":"additional","affiliation":[{"name":"Department of Neurological Surgery, Nippon Medical School, Bunkyo-ku, Tokyo 1138603, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1820-2463","authenticated-orcid":false,"given":"Ryuta","family":"Nakae","sequence":"additional","affiliation":[{"name":"Department of Emergency and Critical Care Medicine, Nippon Medical School Hospital, Tokyo 1138603, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomonori","family":"Tamaki","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Nippon Medical School Tama Nagayama Hospital, Tama, Tokyo 2068512, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenta","family":"Koketsu","sequence":"additional","affiliation":[{"name":"Department of Neurological Surgery, Nippon Medical School, Bunkyo-ku, Tokyo 1138603, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akio","family":"Morita","sequence":"additional","affiliation":[{"name":"Department of Neurological Surgery, Nippon Medical School, Bunkyo-ku, Tokyo 1138603, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,9,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2894","DOI":"10.1161\/STROKEAHA.113.002477","article-title":"Genetic variant RNF213 c.14576G>A in various phenotypes of intracranial major artery stenosis\/occlusion","volume":"44","author":"Miyawaki","year":"2013","journal-title":"Stroke"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1186\/s12199-017-0680-1","article-title":"Rare variants of RNF213 and moyamoya\/non-moyamoya intracranial artery stenosis\/occlusion disease risk: A meta-analysis and systematic review","volume":"22","author":"Liao","year":"2017","journal-title":"Environ. 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