{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T08:46:48Z","timestamp":1769158008500,"version":"3.49.0"},"reference-count":21,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,3,11]],"date-time":"2013-03-11T00:00:00Z","timestamp":1362960000000},"content-version":"vor","delay-in-days":10,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2013,3]]},"abstract":"<jats:p>Association studies have implicated common variants in the 12q14.1 region containing <jats:italic><jats:styled-content style=\"fixed-case\">CYP27B1<\/jats:styled-content><\/jats:italic> in multiple sclerosis (<jats:styled-content style=\"fixed-case\">MS<\/jats:styled-content>). Rare <jats:italic><jats:styled-content style=\"fixed-case\">CYP27B1<\/jats:styled-content><\/jats:italic> mutations cause autosomal recessive vitamin D\u2013dependent rickets type 1, and it has recently been reported that heterozygous <jats:italic><jats:styled-content style=\"fixed-case\">CYP27B1<\/jats:styled-content><\/jats:italic> mutations are associated with increased <jats:styled-content style=\"fixed-case\">MS<\/jats:styled-content> susceptibility and lower active vitamin D levels. By sequencing <jats:italic><jats:styled-content style=\"fixed-case\">CYP27B1<\/jats:styled-content><\/jats:italic> in 134 multiplex families and genotyping the most common variant R389H in 2,608 <jats:styled-content style=\"fixed-case\">MS<\/jats:styled-content> patients and 1,987 controls from Italy and Belgium (a total of 4,729 individuals), we were unable to replicate these observations. These results provide evidence against a major role for <jats:italic><jats:styled-content style=\"fixed-case\">CYP27B1<\/jats:styled-content><\/jats:italic> mutations in MS. ANN NEUROL 2013;73:433\u2013437<\/jats:p>","DOI":"10.1002\/ana.23834","type":"journal-article","created":{"date-parts":[[2012,12,13]],"date-time":"2012-12-13T12:37:14Z","timestamp":1355402234000},"page":"433-437","source":"Crossref","is-referenced-by-count":29,"title":["No evidence for a role of rare <i>CYP27B1<\/i> functional variations in multiple sclerosis"],"prefix":"10.1002","volume":"73","author":[{"given":"Nadia","family":"Barizzone","sequence":"first","affiliation":[{"name":"Department of Health Sciences University of Eastern Piedmont Novara Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ine","family":"Pauwels","sequence":"additional","affiliation":[{"name":"Laboratory for Neuroimmunology, Section of Experimental Neurology Department of Neurosciences, KU Leuven Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernadetta","family":"Luciano","sequence":"additional","affiliation":[{"name":"Department of Health Sciences University of Eastern Piedmont Novara Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dean","family":"Franckaert","sequence":"additional","affiliation":[{"name":"Autoimmune Genetics Laboratory Department of Immunology and Microbiology, KU Leuven Leuven Belgium"},{"name":"VIB Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Franca Rosa","family":"Guerini","sequence":"additional","affiliation":[{"name":"Don C. Gnocchi Foundation ONLUS I.R.C.C.S.S. Maria Nascente Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leentje","family":"Cosemans","sequence":"additional","affiliation":[{"name":"Laboratory for Neuroimmunology, Section of Experimental Neurology Department of Neurosciences, KU Leuven Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kelly","family":"Hilven","sequence":"additional","affiliation":[{"name":"Laboratory for Neuroimmunology, Section of Experimental Neurology Department of Neurosciences, KU Leuven Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Salviati","sequence":"additional","affiliation":[{"name":"Department of Neurological, Neuropsychological, Morphological, and Motor Sciences University of Verona Verona Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James","family":"Dooley","sequence":"additional","affiliation":[{"name":"Autoimmune Genetics Laboratory Department of Immunology and Microbiology, KU Leuven Leuven Belgium"},{"name":"VIB Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dina","family":"Danso\u2010Abeam","sequence":"additional","affiliation":[{"name":"Autoimmune Genetics Laboratory Department of Immunology and Microbiology, KU Leuven Leuven Belgium"},{"name":"VIB Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessia","family":"di Sapio","sequence":"additional","affiliation":[{"name":"Neurologia 2\u2010CRESM AOU San Luigi Orbassano, (Torino) Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Cavalla","sequence":"additional","affiliation":[{"name":"MS Center, Department of Neuroscience Health and Science City Hospital, University of Turin Torino Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brigitte","family":"Decallonne","sequence":"additional","affiliation":[{"name":"Laboratory for Clinical and Experimental Endocrinology Department of Clinical and Experimental Medicine, KU Leuven Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chantal","family":"Mathieu","sequence":"additional","affiliation":[{"name":"Laboratory for Clinical and Experimental Endocrinology Department of Clinical and Experimental Medicine, KU Leuven Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adrian","family":"Liston","sequence":"additional","affiliation":[{"name":"Autoimmune Genetics Laboratory Department of Immunology and Microbiology, KU Leuven Leuven Belgium"},{"name":"VIB Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maurizio","family":"Leone","sequence":"additional","affiliation":[{"name":"Interdisciplinary Research Center of Autoimmune Diseases Novara Italy"},{"name":"SCDU Neurology AOU \u201cMaggiore della Carit\u00e0\u201d Novara Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B\u00e9n\u00e9dicte","family":"Dubois","sequence":"additional","affiliation":[{"name":"Laboratory for Neuroimmunology, Section of Experimental Neurology Department of Neurosciences, KU Leuven Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra","family":"D'Alfonso","sequence":"additional","affiliation":[{"name":"Department of Health Sciences University of Eastern Piedmont Novara Italy"},{"name":"Interdisciplinary Research Center of Autoimmune Diseases Novara Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"An","family":"Goris","sequence":"additional","affiliation":[{"name":"Laboratory for Neuroimmunology, Section of Experimental Neurology Department of Neurosciences, KU Leuven Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,3,11]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature10251"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22678"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00125-010-1791-z"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2011.04.009"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1753-4887.2008.00096.x"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.396"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.2337\/db10-1656"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1530\/eje.0.1510193"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410130302"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.1032"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/519795"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.2337\/dc11-0307"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.87.6.2424"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2012.04394.x"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-2664"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.65.6.809"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1086\/302156"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1074"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/gut.2003.036657"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1359\/JBMR.050908"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.131029498"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.23834","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.23834","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,22]],"date-time":"2023-11-22T15:19:45Z","timestamp":1700666385000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.23834"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,3]]},"references-count":21,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2013,3]]}},"alternative-id":["10.1002\/ana.23834"],"URL":"https:\/\/doi.org\/10.1002\/ana.23834","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,3]]}}}