糖皮质激素受体基因多态性与重症肌无力的关系

目的 探讨糖皮质激素受体(GR)Bcl I、ER22/23EK基因多态性与重症肌无力(MG)的关系.方法 应用PCR产物直接测序方法检测MG患者组(MGG)61例和性别、年龄相匹配的健康对照组(HCG)57例的GR基因多态性分布特征.结果 Bcl I存在C-G突变、ER22/23EK存在G→A突变,Bcl I 3种基因型GG、CG、CC频率在MGG依次为3.3%、34.4%和62.3%;HCG依次为3.5%、38.6%和57.9%,两组间差异无统计学意义(P=0.887).G和C的等位基因频率在MGG分别为20.5%、79.5%;HCG为22.8%和77.2%,两组间差异无统计学意义(P=0.968).两组的基因型多态性分布均符合HaMy-Weinberg定律(P>0.05).ER22/23EK基因型在MGG和HGG组均为GG,未发现变异.结论 GR基因Bcl I、ER22/23EK多态性与MG发病均无明确相关性.

Association of glucocorticoid receptor gene polymorphism with myasthenia gravis

Objective To investigate the association of two glucocorticoid receptor (GR) polymorphisms (Bcl I ,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 Bcl I were 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 Bcl I and ER22/23EK polymorphisms of GR have no definite relationship with the risk of MG.