糖皮质激素受体基因R477H多态性与激素抵抗型哮喘的相关性  

The association of R477H single nucleotide polymorphism of glucocorticoid receptor gene and steroid-resistance in asthma

作　　者：赵峰[1] 蔡累[1] 遆新宇[1] 李树钧[1] 李志奎[1] 刘颖格[1] 吴昌归[1] 

机构地区：[1]西京医院呼吸内科,西安710032

出　　处：《临床肺科杂志》2009年第5期597-599,共3页Journal of Clinical Pulmonary Medicine

基　　金：国家自然基金(NO:30570803)

摘　　要：目的检测糖皮质激素受体(GR)基因R477H的多态性,探讨其与激素抵抗型哮喘的相关性。方法采用聚合酶链反应-序列特异性引物(PCR-SSP)的方法对217例激素敏感型哮喘、64例激素抵抗型哮喘患者及221例健康对照者的GR基因R477H进行多态性分析,判断其与激素抵抗、血清皮质醇浓度及GR解离常数(Kd)的相关性。结果GG、GA及AA基因型频率在抵抗组与敏感组和对照组比较具有显著差异;抵抗组GA+AA基因型及A等位基因频率明显高于其他两组;抵抗组Kd值显著高于敏感组和对照组,但各组内各基因型Kd值无显著差异;血清皮质醇浓度在各基因型无明显差异。结论GR基因R477H多态性与哮喘激素抵抗的产生有关,等位基因A可能是激素抵抗产生的易感基因。Objective To investigate the association of glucocorticoid receptor （GR） gene R477H single nucleotide polymorphisms and stereid-resistant asthma. Methods The R477H single nucleotide polymorphism of GR gene were genotyped in 64 steroid-resistant （SR） asthma patients, 217 steroid-sensitive （SS） asthma patients and 221 healthy control people by the PCR sequence specific primer （PCR-SSP） technique. The plasma cortisol level and GR dissociation constant （ Kd ） were also detected in the three groups. Resuits It was found that the frequencies of GG, GA and AA genotypes of R477H in SR were statistically significant in the distributions of the genotypes from that in SS and the healthy controls. It was also found that GA ＋ AA genotypes and A allele frequencies in SR were high- er than those in SS and the healthy controls significantly. In SR, GR Kd was found higher than in SS and in the healthy controls, but the differences were not different in terms of GG, GA and AA genotypes in the three groups. There was no difference in the plasma cortisol level in all the three genotypes. Conclusion The R477H polymorphism of GR is associated with steroid -resistant asthma and the allele A may be a risk factor for steroid-resistance in Chinese.

关 键 词：哮喘 糖皮质激素受体 抵抗 多态性 

分 类 号：R562.25[医药卫生—呼吸系统]