糖皮质激素受体基因多态性与重症肌无力的关联

[Association of glucocorticoid receptor gene polymorphism with myasthenia gravis].

作者信息

Wang Li-li, Xie Yan-chen, Hou Shi-fang, Feng Kai, Yin Jian, Xu Xian-hao, Li Zun-bo, Wang Ying-peng, Xiong Ting, Liu Jian-jun, Shen Ding-guo

机构信息

Department of Neurology, Beijing Hospital, Ministry of Health, China.

出版信息

Zhonghua Yi Xue Za Zhi. 2009 Nov 24;89(43):3035-7.

PMID:20137628

Abstract

OBJECTIVE

To investigate the association of two glucocorticoid receptor (GR) polymorphisms (BclI, ER22/23EK) with Myasthenia Gravis (MG).

METHODS

The genotypes of GR in 61 MG patients (MGG) and 57 age and gender-matched healthy controls (HCG) were determined by polymerase chain reaction and nucleotide sequence determination.

RESULTS

The frequencies of three genotypes (GG, CG, CC) in BclIwere 3.3%, 34.4%, 62.3% in MGG and 3.5%, 38.6%, 57.9%in HCG respectively. The difference in the distribution of genotypes between MGG and HCG was statistically insignificant (P = 0.887). The frequencies of G and C allele were 20.5% vs 79.5 %in MGG, and 22.8% vs 77.2% in HCG. The difference in the distribution of alleles between MGG and HCG was statistically insignificant (P = 0.968). The genotype frequencies in two groups were both in Hardy-Weinberg equilibrium (P > 0.05). The genotypes of ER22/23EK in MGG and HCG were all GG and no mutation was detected.

CONCLUSION

BclI and ER22/23EK polymorphisms of GR have no definite relationship with the risk of MG.

摘要

目的

研究两种糖皮质激素受体（GR）基因多态性（BclI、ER22/23EK）与重症肌无力（MG）的相关性。

方法

采用聚合酶链反应和核苷酸序列测定法，对61例MG患者（MGG）及57例年龄、性别匹配的健康对照者（HCG）的GR基因型进行检测。

结果

MGG组BclI基因三种基因型（GG、CG、CC）的频率分别为3.3%、34.4%、62.3%，HCG组分别为3.5%、38.6%、57.9%。MGG组与HCG组基因型分布差异无统计学意义（P = 0.887）。MGG组G、C等位基因频率分别为20.5%和79.5%，HCG组分别为22.8%和77.2%。MGG组与HCG组等位基因分布差异无统计学意义（P = 0.968）。两组基因型频率均符合Hardy-Weinberg平衡（P > 0.05）。MGG组和HCG组ER22/23EK基因型均为GG，未检测到突变。