Han Ji-Lan, Yue Yao-Xian, Gao Xiang, Xie Yan-Chen, Hao Hong-Jun, Li Hong-Yan, Yu Xiao-Long, Li Jie, Duan Rui-Sheng, Li Hai-Feng
Department of Neurology, Shandong Provincial Qianfoshan Hospital, Cheeloo College of Medicine, Shandong University, Jinan, China.
Department of Neurology, Weifang People's Hospital, Weifang, China.
Front Neurol. 2021 Feb 9;12:604052. doi: 10.3389/fneur.2021.604052. eCollection 2021.
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 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.
重症肌无力（MG）是一种自身免疫性疾病，其中抗体与神经肌肉接头处突触后膜中的乙酰胆碱受体（AChR）或其他功能分子结合。维生素D（VD）具有多种多能效应，包括免疫调节和骨代谢。1,25(OH)2D3的免疫调节作用是通过其与维生素D受体（VDR）结合来介导的。在本研究中，我们进行了一项病例对照研究，以探讨VDR基因多态性与MG患者易感性和严重程度之间的关联。纳入了480例MG患者和487例健康对照，采用改进的多重连接检测反应技术和SNPscan技术测定VDR的基因多态性。MG患者根据基本临床特征和综合分类分为亚组。比较了MG组与对照组、各MG亚组与对照组以及各对MG亚组之间的等位基因和基因型频率。在按基本临床特征（发病年龄、性别、胸腺瘤、AChRAb阳性、发病受累情况）和最大严重程度（改良Oosterhuis评分）分类的亚组分析中，MG患者与健康对照之间、MG亚组与健康对照之间或各对MG亚组之间的等位基因和基因型频率无显著差异。在综合分类亚组分析中，rs731236的等位基因和基因型频率在成人非胸腺瘤AChRAb阴性MG亚组与对照组以及成人非胸腺瘤AChRAb阳性MG组之间存在显著差异。在中国汉族人群中，发现rs731236可能与成人非胸腺瘤AChRAb阴性MG患者相关，尽管这需要进一步证实。
