{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T23:16:37Z","timestamp":1777936597782,"version":"3.51.4"},"reference-count":41,"publisher":"SAGE Publications","issue":"13","license":[{"start":{"date-parts":[[2013,4,2]],"date-time":"2013-04-02T00:00:00Z","timestamp":1364860800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Mult Scler"],"published-print":{"date-parts":[[2013,11]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>The G allele of NOTCH4 rs422951 is protective against demyelinating disease in Japanese.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives:<\/jats:title>\n                    <jats:p>The purpose of this study was to assess the relation of the G allele to neuromyelitis optica (NMO)\/NMO spectrum disorder (NMOSD) and multiple sclerosis (MS) and the interaction between the G allele and HLA-DRB1 alleles, and to clarify any association of the G allele with clinical features.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>DNA sequencing was used to genotype 106 NMO\/NMOSD patients, 118 MS patients and 152 healthy controls (HCs) for rs422951.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      G allele frequency in MS patients, but not that in NMO\/NMOSD patients, was lower than that in HCs (8.9% vs 21.7%, p&lt;0.0001, odds ratio (OR)=0.35). HLA-DRB1*0405 was positively associated with MS (OR=2.22, p\n                      <jats:sup>corr<\/jats:sup>\n                      =0.0380) while DRB1*0901 was negatively associated (OR=0.32, p\n                      <jats:sup>corr<\/jats:sup>\n                      =0.0114). Logistic regression analyses revealed that, after adjusting for gender and either HLA-DRB1*0405 or DRB1*0901, rs422951 was associated with MS in the dominant model (OR=0.37, 95% confidence interval (CI)= 0.20\u20130.66, p=0.0012). Haplotype analyses identified two susceptible and three resistant haplotypes formed from rs422951 and either HLA-DRB1*0405 or DRB1*0901. There were no statistically significant differences in clinical features between G allele carriers and non-G allele carriers.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>This NOTCH4 missense mutation decreased the risk for developing MS in Japanese, but did not affect clinical features of those who had already developed the disease.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/1352458513482512","type":"journal-article","created":{"date-parts":[[2013,4,2]],"date-time":"2013-04-02T22:12:41Z","timestamp":1364940761000},"page":"1696-1703","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":8,"title":["A\n                    <i>NOTCH4<\/i>\n                    missense mutation confers resistance to multiple sclerosis in Japanese"],"prefix":"10.1177","volume":"19","author":[{"given":"Jian","family":"Huang","sequence":"first","affiliation":[{"name":"Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoshi","family":"Yoshimura","sequence":"additional","affiliation":[{"name":"Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noriko","family":"Isobe","sequence":"additional","affiliation":[{"name":"Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takuya","family":"Matsushita","sequence":"additional","affiliation":[{"name":"Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, 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