糖皮质激素受体基因多态性与重症肌无力预后的相关性  

The association of glucocorticoid receptor gene polymorphism with the prognosis of 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,100038

出　　处：《中华神经科杂志》2015年第6期493-497,共5页Chinese Journal of Neurology

摘　　要：目的 探讨糖皮质激素受体（GR） BclI基因多态性与重症肌无力（MG）预后的关系.方法 收集2002-2014年就诊于北京世纪坛医院神经内科的74例MG患者,其中眼肌型起病54例,全身型起病20例.根据起病2年时的病情将MG患者分为单一病程组（n=48）和复发组（n=26）.将明确知道起病2年时预后的眼肌型起病患者（n=40）分为进展为全身型重症肌无力（GMG）组（n=34）和仍为眼肌型重症肌无力（OMG）组（n=6）.其中明确知道OMG进展为GMG时间的为27例,将进展为GMG的眼肌型起病MG患者根据进展为GMG的时间分为≤6个月组（n=21）、7～24个月组（n=6）.再根据进展为GMG的首发症状分为四肢肌受累组（n=8）、咽喉肌肉受累组（n=13）、四肢咽喉肌均受累组（n=6）.应用PCR产物直接测序方法检测各组MG患者GR基因多态性分布特征.结果 BclI存在C→G突变,BclI 3种基因型GG、CG、CC频率在MG复发病程组（57.7％、34.6％和7.7％）和单一病程组中（64.6％、31.3％和4.1％）差异无统计学意义（x2=0.570,P=0.750）.G和C等位基因频率在MG复发组（75.0％、25.0％）与单一病程组（80.2％和19.8％）间差异无统计学意义（x2=0.540,P=0.462）.3种基因型GG、GC、CC频率在进展为GMG组分别为55.9％、35.3％和8.8％;在仍为OMG组分别为2/6、4/6和0/6,差异无统计学意义（x2 =2.278,P=0.320）.G、C等位基因频率在两组中（73.5％、26.5％与8/12、4/12）差异无统计学意义（χ2=0.241,P =0.624）.在进展为GMG的不同时间组,基因型GG、GC、CC频率在≤6个月组（61.9％、28.6％和9.5％）与7～24个月组（3/6、3/6和0/6）差异无统计学意义（χ2=1.326,P =0.515）.G、C等位基因频率在两组中（76.2％、23.8％与9/12、3/12）差异亦无统计学意义（χ2 =0.007,P=0.932）.在四肢肌受累组、咽喉肌肉受累组和四肢咽喉肌均受累组中,GG、GC、CC 3种基因型频率分别为2/8、4/8和2/8,11/13、2/13�Objective To investigate the association of glucocorticoid receptor （GR） polymorphisms （BclI）with the prognosis of myasthenia gravis （MG）.Methods We totally enrolled 74 patients diagnosed as MG from the Department of Neurology,Beijing Shijitan Hospital between 2002 and 2014.Of them,54 patients started with ocular MG and 20 patients started with general MG.MG patients were divided into recurrence group and non-recurrence group according to the progression at two years after onset.Patients with simple ocular symptom at disease onset were further divided into generalized MG （GMG） group and single ocular MG （OMG） group according to disease progression or not.The GMG group was divided into two groups （≤6 months,7-24 months） according to the progression time of generalization.The GMG group was further divided into three groups （limbs,throat,both limbs and throat） according to the first symptom of generalization.The genotypes of GR were determined by polymerase chain reaction and nucleotide sequence determination.Results The frequencies of three genotypes （GG,CG,CC） in BclI were 57.7%,34.6%,7.7% in recurrence MG and 64.6%,31.3%,4.1% in non-recurrence MG respectively.The difference in distribution of the genotypes between the two groups was not statistically significant （x2 =0.570,P =0.750）.The frequencies of G and C allele were 75.0% and 25.0% in recurrence MG,and 80.2% and 19.8% in non-recurrence MG.The difference in distribution of the alleles between the two groups was not statistically significant （x2 =0.540,P =0.462）.The frequencies of three genotypes GG,GC and CC were 55.9%,35.3%,8.8% in GMG and 2/6,4/6,0/6 in OMG respectively.The frequencies of G and C allele were 73.5% and 26.5 % in GMG,and 8/12,4/12 in OMG.The difference in distribution of the genotypes and alleles between the two groups was not statistically significant （x2 =2.278,P =0.320;x2 =0.241,P =0.624）.The frequencies of three genotypes GG,GC,CC were respectively 61.9%,28.6%,9.5% and 3/6,3/6,0/6 in ≤6 mont

关 键 词：重症肌无力 受体 糖皮质激素 多态现象 遗传 预后 

分 类 号：R746.1[医药卫生—神经病学与精神病学]