{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:06:56Z","timestamp":1791295616213,"version":"4.1.0"},"reference-count":15,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"10","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Stroke"],"published-print":{"date-parts":[[2013,10]]},"abstract":"<jats:sec>\n            <jats:title>Background and Purpose\u2014<\/jats:title>\n            <jats:p>\n              Recently, we reported a common genetic variant,\n              <jats:italic>ring finger protein 213<\/jats:italic>\n              (\n              <jats:italic>RNF213<\/jats:italic>\n              ) c.14576G&gt;A variant, a susceptibility gene for moyamoya disease (MMD), among patients with intracranial major artery stenosis\/occlusion (ICASO) in a selected Japanese population. The aim of this 2-center\u2013based case\u2013control study was to confirm our previous finding in a larger population.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods\u2014<\/jats:title>\n            <jats:p>Study participants were recruited from The University of Tokyo Hospital and Kanto Neurosurgical Hospital. The occurrence rate of c.14576G&gt;A variant was investigated in 323 patients, 22 with definite MMD, 8 with unilateral MMD, 84 with ICASO in the absence of MMD (non-MMD ICASO), 34 with extracranial carotid atherosclerosis, 44 with cerebral aneurysm, 21 with intracerebral hemorrhage, and 110 control subjects.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results\u2014<\/jats:title>\n            <jats:p>\n              RNF213 c.14576G&gt;A variant was found in 1.8% (2\/110) of the normal control group and had significant associations with definite MMD (\n              <jats:italic>P<\/jats:italic>\n              &lt;0.0001; odds ratio, 144.0; 95% confidence interval, 26.7\u2013775.9), unilateral MMD (\n              <jats:italic>P<\/jats:italic>\n              =0.0001; odds ratio, 54.0; 95% confidence interval, 7.5\u2013386.8), and non-MMD ICASO (\n              <jats:italic>P<\/jats:italic>\n              &lt;0.0001; odds ratio, 16.8; 95% confidence interval, 3.81\u201374.5). There was no significant association with extracranial carotid atherosclerosis, cerebral aneurysm, or intracerebral hemorrhage. This result replicated our previous findings.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions\u2014<\/jats:title>\n            <jats:p>\n              A particular subset of patients with various phenotypes of ICASO has a common genetic variant,\n              <jats:italic>RNF213<\/jats:italic>\n              c.14576G&gt;A, indicating that\n              <jats:italic>RNF213<\/jats:italic>\n              c.14576G&gt;A variant is a high-risk allele for ICASO.\n            <\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/strokeaha.113.002477","type":"journal-article","created":{"date-parts":[[2013,8,23]],"date-time":"2013-08-23T04:35:26Z","timestamp":1377232526000},"page":"2894-2897","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":150,"title":["Genetic Variant\n            <i>RNF213<\/i>\n            c.14576G&gt;A in Various Phenotypes of Intracranial Major Artery Stenosis\/Occlusion"],"prefix":"10.1161","volume":"44","author":[{"given":"Satoru","family":"Miyawaki","sequence":"first","affiliation":[{"name":"From the Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo, Japan (S.M., H.I., H.O., A.M., H.N., N.S.); and Kanto Neurosurgical Hospital, Kumagaya, Saitama, Japan (M.S., S.Y., T.S.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideaki","family":"Imai","sequence":"additional","affiliation":[{"name":"From the Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo, Japan (S.M., H.I., H.O., A.M., H.N., N.S.); and Kanto Neurosurgical Hospital, Kumagaya, Saitama, Japan (M.S., S.Y., T.S.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masahiro","family":"Shimizu","sequence":"additional","affiliation":[{"name":"From the Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo, Japan (S.M., H.I., H.O., A.M., H.N., N.S.); and Kanto Neurosurgical Hospital, Kumagaya, Saitama, Japan (M.S., S.Y., T.S.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinichi","family":"Yagi","sequence":"additional","affiliation":[{"name":"From the Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo, Japan (S.M., H.I., H.O., A.M., H.N., N.S.); and Kanto Neurosurgical Hospital, Kumagaya, Saitama, Japan (M.S., S.Y., T.S.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideaki","family":"Ono","sequence":"additional","affiliation":[{"name":"From the Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo, Japan (S.M., H.I., H.O., A.M., H.N., N.S.); and Kanto Neurosurgical Hospital, Kumagaya, Saitama, Japan (M.S., S.Y., T.S.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akitake","family":"Mukasa","sequence":"additional","affiliation":[{"name":"From the Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo, Japan (S.M., H.I., H.O., A.M., H.N., N.S.); and Kanto Neurosurgical Hospital, Kumagaya, Saitama, Japan (M.S., S.Y., T.S.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirofumi","family":"Nakatomi","sequence":"additional","affiliation":[{"name":"From the Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo, Japan (S.M., H.I., H.O., A.M., H.N., N.S.); and Kanto Neurosurgical Hospital, Kumagaya, Saitama, Japan (M.S., S.Y., T.S.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsuneo","family":"Shimizu","sequence":"additional","affiliation":[{"name":"From the Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo, Japan (S.M., H.I., H.O., A.M., H.N., N.S.); and Kanto Neurosurgical Hospital, Kumagaya, Saitama, Japan (M.S., S.Y., T.S.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuhito","family":"Saito","sequence":"additional","affiliation":[{"name":"From the Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo, Japan (S.M., H.I., H.O., A.M., H.N., N.S.); and Kanto Neurosurgical Hospital, Kumagaya, Saitama, Japan (M.S., S.Y., T.S.)."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(09)70025-0"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(10)60834-3"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410250410"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.str.0000107187.84390.aa"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1161\/STROKEAHA.111.000480"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.STR.17.4.648"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1161\/strokeaha.112.663864"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0048179"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318249f71f"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0022542"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2010.132"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.2176\/nmc.52.245"},{"key":"e_1_3_2_14_2","unstructured":"Hayashi K Horie N Suyama K Nagata I. An epidemiological survey of moyamoya disease unilateral moyamoya disease and quasi-moyamoya disease in Japan. Clin Neurol Neurosurg. October 4 2012. doi:10.1016\/j.clineuro.2012.09.020.:http:\/\/www.clineu-journal.com. Accessed April 20 2013."},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.2176\/nmc.52.299"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1007\/s12199-012-0299-1"}],"container-title":["Stroke"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ahajournals.org\/doi\/full\/10.1161\/STROKEAHA.113.002477","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,13]],"date-time":"2024-05-13T14:14:06Z","timestamp":1715609646000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ahajournals.org\/doi\/10.1161\/STROKEAHA.113.002477"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,10]]},"references-count":15,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2013,10]]}},"alternative-id":["10.1161\/STROKEAHA.113.002477"],"URL":"https:\/\/doi.org\/10.1161\/strokeaha.113.002477","relation":{},"ISSN":["0039-2499","1524-4628"],"issn-type":[{"value":"0039-2499","type":"print"},{"value":"1524-4628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,10]]},"assertion":[{"value":"2013-06-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2013-07-08","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2013-08-22","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}