β2肾上腺素能受体基因多态性对伴发其他自身免疫性疾病的重症肌无力预后的影响  

Role of β2-adrenergic receptor polymorphisms in prognosis of myasthenia gravis with other autoimmune diseases

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,100038

出　　处：《中华神经科杂志》2015年第5期390-394,共5页Chinese Journal of Neurology

摘　　要：目的 探讨β2肾上腺素能受体（β2-AR）基因16位密码子遗传多态性在伴发其他自身免疫性疾病的重症肌无力（myasthenia gravis,MG）预后中的作用.方法 75例MG患者,其中17例伴发其他自身免疫性疾病（AIDMG）,58例不伴发其他自身免疫性疾病（NAIDMG）.根据起病2年时病情将MG患者、AIDMG患者、NAIDMG患者分别分为复发病程组和单一病程组,应用PCR产物直接测序检测β2-AR基因16位点多态性分布.比较MG患者复发病程组和单一病程组、AIDMG患者复发病程组和单一病程组、NAIDMG患者复发病程组和单一病程组间β2-AR基因16位点多态性分布的差异.结果 β2-AR基因16位点Arg/Arg、Arg/Gly和Gly/Gly基因型频率在MG复发病程组依次为30.8％、50.0％和19.2％,MG单一病程组依次为42.9％、38.8％和18.3％,两组间差异无统计学意义（x2=1.150,P=0.563）.Arg和Gly的等位基因频率在MG复发病程组分别为55.8％和44.2％,MG单一病程组为62.2％和37.8％,两组间差异无统计学意义.16位点3种基因型频率在AIDMG复发组依次为27.3％、63.6％和9.1％,单一病程组依次为100.0％、0和0,两组间差异有统计学意义（P =0.009）.Arg和Gly等位基因频率在MG复发组为59.1％和40.9％,MG单一病程组为100.0％和0,两组间差异有统计学意义（x2=6.676,P=0.010）.16位点3种基因型频率在NAIDMG复发组依次为33.3％、40.0％和26.7％,单一病程组依次为34.9％、44.2％和20.9％,两组间差异无统计学意义.Arg和Gly等位基因频率在MG复发病程组为53.3％和46.7％,MG单一病程组为57.0％和43.0％,两组间差异无统计学意义.各组的基因型多态性分布均符合Hardy-Weinberg定律.结论 β2-AR 16位点基因多态性与AIDMG起病2年时是否复发相关,与MG和NAIDMG复发无明确相关性.Objective To explore the correlation of β2-adrenergic receptor （β2-AR）polymorphisms （Arg16Gly） with the prognosis of myasthenia gravis （MG） complicated with other autoimmune diseases.Methods Among the 75 MG patients in analysis,17 cases were complicated with other autoimmune diseases （AIDMG）,58 cases without other autoimmune diseases （NAIDMG）.MG patients,AIDMG patients,NAIDMG patients were separately divided into recurrence groups and nonrecurrence groups according to the progression at 2 years after onset.The genotypes of β2-AR in 75 MG patients were determined by gene sequecing.Results The frequencies of three genotypes （Arg/Arg,Arg/Gly and Gly/Gly） in position 16 were 30.8%,50.0%,19.2% in recurrence MG group and 42.9%,38.8%,18.3% in non-recurrence MG group respectively.The difference in distribution of the genotypes between recurrence MG group and non-recurrence MG group was not statistically significant （x2 =1.150,P=0.563）.The frequencies of Arg and Gly allele were 55.8% and 44.2% in recurrence MG group,and 62.2% and 37.8% in non-recurrence MG group.The difference in distribution of the alleles between the two groups was not statistically significant.The frequencies of 3 genotypes in position 16 were 27.3%,63.6% and 9.1% in recurrence AIDMG group and 100.0%,0,0 in non-recurrence AIDMG group,respectively.The frequencies of Arg and Gly allele were 59.1%,40.9% in recurrence AIDMG group,and 100.0%,0 in non-recurrence AIDMG group.The difference in distribution of the genotypes between recurrence AIDMG group and non-recurrence AIDMG group was statistically significant （P =0.009）.There also was significant difference in distribution of alleles between recurrence and non-recurrence AIDMG groups （x2 =6.676,P =0.010）.The frequencies of 3 genotypes in position 16 were 33.3%,40.0% and 26.7%in recurrence NAIDMG group and 34.9%,44.2%,20.9% in non-recurrence NAIDMG group,respectively.The frequencies of Arg and Gly allele were 53.3%,46.7% in recurrence NAIDMG group,and 57.0%,43.0% in no

关 键 词：重症肌无力 受体 肾上腺素能Β2 多态现象 遗传 自身免疫疾病 预后 

分 类 号：R746.1[医药卫生—神经病学与精神病学]