β2肾上腺素能受体基因多态性与早发重症肌无力关系研究  

The relationship between β2-adrenergic receptor polymorphisms and early onset Myasthenia Gravis

作　　者：王莉莉[1] 张运[1] 贺茂林[1] 

机构地区：[1]首都医科大学附属北京世纪坛医院神经内科,北京100038

出　　处：《中国神经精神疾病杂志》2015年第6期355-359,共5页Chinese Journal of Nervous and Mental Diseases

摘　　要：目的探讨β2肾上腺素能受体(β2 adrenergic receptor,β2-AR)16位点基因多态性与不同临床表型的早发重症肌无力(myasthenia gravis,MG)的关系。方法 105例MG患者,其中起病年龄≤40岁的早发MG为48例。根据胸腺影像将早发MG患者分为胸腺正常组(13例)、胸腺增生组(22例)和胸腺瘤组(7例),未知6例。根据性别分为女性组(31例)和男性组(17例),根据首发症状分为OMG组(29例)和GMG组(19例),根据伴发其他自身免疫疾病情况分为伴发(10例)和不伴发(33例)其他自身免疫性疾病组,未知5例。PCR产物直接测序方法检测相对应的两组间β2-AR基因16位点多态性分布差异。结果胸腺正常的早发MG患者16位点基因型以Arg/Arg(53.8%)为主,胸腺增生以Arg/Arg(54.6%)为主,胸腺瘤以Arg/Gly(71.4%)为主,3组间3种基因型分布差异无统计学意义(χ2=5.657,P=0.226)。女性早发MG患者16位点基因型以Arg/Arg(58.1%)为主,男性早发MG患者以Arg/Gly(58.8%)为主,组间差异有统计学意义(χ2=6.064,P=0.048)。首发OMG组以Arg/Arg(48.3%)基因型为主,GMG组Arg/Arg(42.1%)和Arg/Gly(47.4%)比例相似,组间差异无统计学意义(χ2=1.623,P=0.444)。伴发其他自身免疫性疾病组以Arg/Arg(80.0%)为主,不伴发组以Arg/Gly(39.4%)为主,组间差异有统计学意义(χ2=6.394,P=0.041)。结论β2-AR基因16位点基因多态性与不同性别的早发型MG相关;与伴发其他自身免疫性疾病的早发型MG相关。Objective To explore the correlation of β2-adrenergic receptor（β2-AR） polymorphisms（Arg16Gly）with early onset Myasthenia Gravis（MG）.Methods Forty-eight with age less than 40 years at disease onset were divided into three groups： normal thymus（13 cases）, thymic hyperplasia（22 cases） and thymoma（7 cases） groups according to the thymus histology. These patients were further divided into different subgroups including female（31 cases） and male groups（17 cases） based on the gender, OMG（29 cases） and GMG（19 cases） groups according to the symptom of disease onset and groups associated with（10 cases） or without（33cases） other autoimmune diseases Or with unknown causes（5cases）. The genotypes of β2-AR in 48 early onset MG were determined by gene sequencing.Results Arg/Arg was more common in early MG patient with normal thymus（ 53.8%）and thymic hyperplasia（54.6%）whereas Arg/Gly was more common in thymus group（71.4%）. The difference in distribution of the genotypes between the three groups was not statistically significant（ χ2=5.657,P=0.226）. Arg/Arg was more common in early female MG patient（58.1%） and Arg/Gly was more common in male MG patients（58.8%）. The difference in distribution of the genotypes between the two groups wasstatistically significant（ χ2=6.064,P=0.048）. Arg/Arg was more common in early OMG patient（48.3%）. Arg/Arg（42.1%）and Arg/Gly（47.4%） were equal common in GMG patients. The difference in distribution of the genotypes between the two groups was statistically significant（ χ2=1.623,P=0.444）. Arg/Arg was more common in early MG patient associated with other autoimmune diseases（80.0%）. Arg/Gly was more common in MG patients without other autoimmune diseases（39.4%）. The difference in distribution of the genotypes between the three groups was statistically significant（ χ2=6.394,P=0.041）.Conclusion β2-AR gene polymorphism in position 16 is associated with gender and other autoimmune diseases in pa

关 键 词：重症肌无力 Β2肾上腺素能受体 基因多态性 单核苷酸 

分 类 号：R746.1[医药卫生—神经病学与精神病学]