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Neurol."],"abstract":"<jats:p>Myasthenia gravis (MG) is an autoimmune disease in which antibodies bind to acetylcholine receptors (AChR) or other functional molecules in the postsynaptic membrane at the neuromuscular junction. Vitamin D (VD) has a number of pluripotent effects, which include immune-regulation and bone metabolism. The immunomodulatory actions of 1,25(OH)2D3 are mediated by its binding to a vitamin D receptor (VDR). In the study, we undertook a case-control study to explore the association between VDR gene polymorphism and the susceptibility and severity of MG patients. Four hundred and eighty MG patients and 487 healthy controls were included and gene polymorphisms of VDR were determined with improved multiplex ligation detection reaction technique and SNPscan<jats:sup>TM<\/jats:sup> technique. MG patients were classified into subgroups by essential clinical features and by a comprehensive classification. The frequencies of alleles and genotypes were compared between the MG group and the control group, between each MG subgroup and the control group, and between each pair of MG subgroups. There were no significant differences in frequencies of alleles and genotypes between MG patients and healthy controls, between MG subgroups and healthy controls, or between each pair of MG subgroups in the analysis of subgroups classified by essential clinical features (onset age, gender, thymoma, AChRAb positivity, onset involvement) and the maximal severity (modified Oosterhuis score). In the analysis of subgroups with a comprehensive classification, the frequencies of alleles and genotypes in rs731236 showed significant differences between adult non-thymoma AChRAb negative MG subgroup and the control group, as well as the adult non-thymoma AChRAb positive MG group. In the Chinese Han population, rs731236 was found to be possibly associated with adult non-thymoma AChRAb negative MG patients, although this needs further confirmation.<\/jats:p>","DOI":"10.3389\/fneur.2021.604052","type":"journal-article","created":{"date-parts":[[2021,2,9]],"date-time":"2021-02-09T10:50:07Z","timestamp":1612867807000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":6,"title":["Vitamin D Receptor Polymorphism and Myasthenia Gravis in Chinese Han Population"],"prefix":"10.3389","volume":"12","author":[{"given":"Ji-Lan","family":"Han","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yao-Xian","family":"Yue","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiang","family":"Gao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan-Chen","family":"Xie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong-Jun","family":"Hao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong-Yan","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiao-Long","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rui-Sheng","family":"Duan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hai-Feng","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2021,2,9]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"2570","DOI":"10.1056\/NEJMra1602678","article-title":"Myasthenia Gravis","volume":"375","author":"Gilhus","year":"2016","journal-title":"N Engl J Med"},{"key":"B2","doi-asserted-by":"publisher","first-page":"90","DOI":"10.1016\/j.jaut.2013.12.011","article-title":"Myasthenia gravis: a comprehensive review of immune dysregulation and etiological mechanisms","volume":"52","author":"Berrih-Aknin","year":"2014","journal-title":"J Autoimmun."},{"key":"B3","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1111\/j.1365-2567.2011.03482.x","article-title":"Vitamin D3: a helpful immuno-modulator","volume":"134","author":"Di Rosa","year":"2011","journal-title":"Immunology."},{"key":"B4","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1111\/sji.12512","article-title":"Immunomodulatory and Immunosuppressive roles of 1\u03b1,25(OH)2D3 In Autoimmune Diseases","volume":"85","author":"Alhassan Mohammed","year":"2017","journal-title":"Scand J Immunol."},{"key":"B5","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1007\/s00223-019-00577-2","article-title":"Vitamin D, autoimmune disease and rheumatoid arthritis","volume":"106","author":"Harrison","year":"2020","journal-title":"Calcif Tissue Int."},{"key":"B6","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1007\/5584_2018_246","article-title":"Immunomodulatory role of vitamin D: a review","volume":"1108","author":"Skrobot","year":"2018","journal-title":"Adv Exp Med Biol."},{"key":"B7","doi-asserted-by":"publisher","first-page":"1291","DOI":"10.1080\/13543776.2016.1216547","article-title":"Vitamin D receptor 2016: novel ligands and structural insights","volume":"26","author":"Maestro","year":"2016","journal-title":"Expert Opin Ther Pat."},{"key":"B8","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1080\/08820139.2019.1674325","article-title":"VDR gene polymorphisms and allergic diseases: evidence from a meta-analysis","volume":"49","author":"Zhang","year":"2020","journal-title":"Immunol Invest."},{"key":"B9","doi-asserted-by":"publisher","first-page":"318","DOI":"10.1007\/s12020-012-9812-y","article-title":"Polymorphisms in the vitamin D receptor gene and risk of Autoimmune. 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