PTPN22基因多态性与重症肌无力的相关性  

Association Study between PTPN22 Gene Polymorphism and Myasthenia Gravis

作　　者：苏源 王琦[2] 张贤军[2] 岳耀先 SU Yuan;WANG Qi;ZHANG XianJun(Neurorehabilitation center,Beijing Rehabilitation Hospital,Capital Medical University,Beijing 100144,China)

机构地区：[1]首都医科大学附属北京康复医院神经康复中心,北京100144 [2]青岛大学附属医院神经内科,山东青岛266003 [3]山东大学齐鲁医院(青岛)神经内科,山东青岛266035

出　　处：《中风与神经疾病杂志》2023年第1期44-47,共4页Journal of Apoplexy and Nervous Diseases

摘　　要：目的探索蛋白酪氨酸磷酸酶非受体型22(protein tyrosine phosphatase,non-receptor type 22,PTPN22)基因中rs2488457和rs3811021位点的单核苷酸多态性与重症肌无力(myasthenia gravis,MG)易感性、严重程度和转型的相关性。方法在480例MG和487例健康查体人群中,比较PTPN22基因rs2488457及rs3811021位点基因多态性在MG组及各相关亚组[性别、发病年龄、首发受累范围、胸腺情况、乙酰胆碱受体(acetylcholine receptor,AChR)抗体]、严重程度亚组、转型亚组和MG复合分类中各亚组的差异。结果PTPN22基因rs2488457及rs3811021位点的等位基因和基因型频率在MG整组和对照组间无显著性差异,在各亚组(性别、发病年龄、伴/不伴胸腺瘤、AChR抗体阳性/阴性、首发眼肌型/全身型)与对照组间,及各亚组间无显著性差异;在严重程度亚组及转型亚组(2年内转型和未转型)与对照组及各亚组间无显著性差异。采用复合分类方法,也未发现这两个位点的等位基因和基因型与对照组或各亚组间存在显著性差异。结论未发现PTPN22基因rs2488457及rs3811021位点基因多态性与MG的易感性、严重程度和转型有关。Objective To explore the association between the susceptibility,severity and generalization of myasthenia gravis(MG)and polymorphisms of rs2488457 and rs3811021.Methods We compare the allele frequencies between 480 MG patients and 487 healthy controls,between each pair of MG subgroups and between each MG subgroup and the control group.Subgroups were specified by susceptibility(gender,onset age,thymoma,AChRAb and onset muscle involvement,and each subgroup within a comprehensive classification of MG),maximal severity and generalization of MG.We compare genotype frequencies under log-additive and codominant mode of inheritance.Results No significant differences were found in allele frequencies of the two SNPs between MG group/each MG subgroup and the control group,and between each pair of MG subgroups,as well as no significant differences in genotype frequencies under additive and codominant mode of inheritance.In the comprehensive classification of MG established with combination of clinical features,there were no significant differences in allele and genotype frequencies of the two SNPs in each subgroup.Conclusion PTPN22 gene polymorphisms are not associated with the susceptibility,severity or generalization of MG.

关 键 词：重症肌无力 PTPN22 基因多态性 易感性 严重程度 

分 类 号：R746.1[医药卫生—神经病学与精神病学]