{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,4]],"date-time":"2025-10-04T18:29:51Z","timestamp":1759602591383,"version":"3.37.3"},"reference-count":43,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,7,9]],"date-time":"2013-07-09T00:00:00Z","timestamp":1373328000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea (NRF)","doi-asserted-by":"crossref","award":["2011-0004453"],"award-info":[{"award-number":["2011-0004453"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Ministry of Health & Welfare, Republic of Korea","award":["A101023"],"award-info":[{"award-number":["A101023"]}]},{"name":"National Biobank of Korea","award":["KOBB-2010-19"],"award-info":[{"award-number":["KOBB-2010-19"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropathology Appl Neurobio"],"published-print":{"date-parts":[[2013,8]]},"abstract":"Aims<\/jats:title>Multiple sclerosis (MS<\/jats:styled-content>) and neuromyelitis optica (NMO<\/jats:styled-content>) are inflammatory autoimmune diseases that affect the central nervous system. Several genome\u2010wide and candidate gene studies have identified genetic polymorphisms associated with the risk of MS<\/jats:styled-content> or NMO<\/jats:styled-content>. In particular, two recently published studies of meta\u2010analysis in E<\/jats:styled-content>uropean\u2010origin populations have suggested associations of single\u2010nucleotide polymorphisms (SNPs<\/jats:styled-content>) in CD6<\/jats:italic><\/jats:styled-content>, TNFRSF1A<\/jats:italic><\/jats:styled-content> and IRF8<\/jats:italic><\/jats:styled-content> with MS<\/jats:styled-content>. The aim of our study was to assess the associations between SNPs<\/jats:styled-content> in these three genes and the risk of inflammatory demyelinating disease (IDD<\/jats:styled-content>) including MS<\/jats:styled-content> and NMO<\/jats:styled-content>. To the best of our knowledge, this is the first time such a study has been performed in an Asian population.<\/jats:p><\/jats:sec>Methods<\/jats:title>A total of 21 SNPs<\/jats:styled-content> of CD6<\/jats:italic><\/jats:styled-content>, TNFRSF1A<\/jats:italic><\/jats:styled-content> and IRF8<\/jats:italic><\/jats:styled-content> were genotyped in 178 IDD<\/jats:styled-content> cases (79 MS<\/jats:styled-content> and 99 NMO<\/jats:styled-content> patients) and 237 normal controls in a K<\/jats:styled-content>orean population.<\/jats:p><\/jats:sec>Results<\/jats:title>Logistic analyses revealed that one SNP<\/jats:styled-content> in CD6<\/jats:italic><\/jats:styled-content> (rs12288280<\/jats:italic><\/jats:styled-content>, P<\/jats:styled-content><\/jats:italic>\u2009=\u20090.04) and three SNPs<\/jats:styled-content> in TNFRSF1A<\/jats:italic><\/jats:styled-content> (rs767455<\/jats:italic><\/jats:styled-content>, rs4149577<\/jats:italic><\/jats:styled-content> and rs1800693<\/jats:italic><\/jats:styled-content>, P<\/jats:styled-content><\/jats:italic>\u2009=\u20090.01\u20130.03) were associated with NMO<\/jats:styled-content>. However, there was no association of IRF8<\/jats:italic><\/jats:styled-content> polymorphisms with IDD<\/jats:styled-content>, including MS<\/jats:styled-content> and NMO<\/jats:styled-content>. Using further information from the SNP F<\/jats:styled-content>unction P<\/jats:styled-content>rediction website, two exonic splicing enhancers (ESEs<\/jats:styled-content>), including the polymorphic site of rs767455<\/jats:italic><\/jats:styled-content>, were predicted to be binding sites for splicing factors (SRp55<\/jats:styled-content>, SF2<\/jats:styled-content>\/ASF2<\/jats:styled-content> and SF2<\/jats:styled-content>\/ASF1<\/jats:styled-content>).<\/jats:p><\/jats:sec>Conclusion<\/jats:title>Although additional studies are needed, our findings could provide information regarding the genetic aetiology of IDD<\/jats:styled-content> in the K<\/jats:styled-content>orean population.<\/jats:p><\/jats:sec>","DOI":"10.1111\/j.1365-2990.2012.01304.x","type":"journal-article","created":{"date-parts":[[2012,9,21]],"date-time":"2012-09-21T11:49:05Z","timestamp":1348228145000},"page":"519-530","source":"Crossref","is-referenced-by-count":25,"title":["Associations of CD6<\/i><\/scp>, TNFRSF1A<\/i><\/scp> and IRF8<\/i><\/scp> polymorphisms with risk of inflammatory demyelinating diseases"],"prefix":"10.1111","volume":"39","author":[{"given":"T.\u2010J.","family":"Park","sequence":"first","affiliation":[{"name":"Department of Life Science Sogang University Seoul"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. 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