糖皮质激素受体基因多态性与汉族儿童哮喘关系研究

Association of the glucocorticoid receptor gene polymorphisms with childhood asthma in Han nationality

目的探讨糖皮质激素受体(GR)基因BclⅠ、N363S、ER22/23EK、TthⅢ1多态性在汉族人群中分布及其与汉族儿童哮喘的关系。方法 2011—2012年上海交通大学医学院附属新华医院儿童呼吸科就诊的哮喘儿童285例为哮喘组,同期上海交通大学医学院的健康学生自愿者223名为正常对照组,标准方法从口腔黏膜脱落细胞中提取DNA,采用Taqman探针法对两组GR基因BclⅠ、N363S、ER22/23EK、TthⅢ1多态性进行单核苷酸多态位点分型,比较两组各基因型和等位基因频率。结果两组GR基因BclⅠ、N363S、ER22/23EK、TthⅢ1等4个位点基因型分布比较发现,哮喘组BclⅠ位点CC基因型为4.2%、CG基因型为31.6%、GG基因型为64.2%,TthⅢ1位点CC基因型为84.6%、CT基因型为14.7%、TT基因型为0.7%;对照组BclI位点CC基因型为4.5%、CG基因型为29.1%、GG基因型为66.4%;TthⅢ1位点CC基因型为83.9%、CT基因型为16.1%、TT基因型为0。两组差异无统计学意义(P>0.05)。两组均未发现N363S和ER22/23EK多态性存在。结论 GR基因BclⅠ、N363S、ER22/23EK、TthⅢ1多态性与汉族儿童哮喘可能无明显相关性。且N363S和ER22/23EK在汉族人群中可能无多态性,此二基因存在明显种族差异。

Objective To investigate the genotypic frequency and the association of four SNPs （ Bcl 1 , N363S, ER22/ 23EK, Tth m 1 ） in the glucocorticoid receptor gene with childhood asthma in Han nationality. Methods The oral mucosa swabs of 285 Han nationality children with asthma who had come to the outpatient of asthma from 2011 to 2012 were collected.The 4 single nucleotide polymorphisms （SNPs） were assessed by real-time polymerase chain reaction （PCR） using the TaqMan Allelic Discrimination （AD） assay.Besides, another 223 healthy subjects who came from Shanghai Jiao Tong University served as controls. Genotype and genotypic distribution between these two groups were analysed.Resuits There was no obvious difference in genotype and genotypic distribution of SNP loci of Bcl I , N363S, ER22/23EK or Tth m 1 between asthmatic children and normal controls （P 〉 0.05）. No aberrance was found in N363S or ER22/23EK of glucocorticoid receptor gene between asthma group and control group. Conclusion It seems that the 4 SNPs （Bcl I , N363S, ER22/23EK, Tth III 1） in the glucocorticoid receptor gene do not play an important role in childhood asthma of Han ethnic. No N363S or ER22/23EK variants are found in Han people. It is also known that the frequency of N363S and ER22/23EK polymorphisms varies greatly between ethnic populations.