Kmyta V, Orlovskyi V, Prystupa L, Prystupa E
1Sumy State University, Sumy; 2Lviv State University of Physical Culture, Lviv, Ukraine.
Georgian Med News. 2015 Mar(240):51-5.
The aim of our study was to investigate frequencies of alleles and genotypes of Bcl1 GR gene polymorphism and their correlation with prevalence of BA. Study involved 188 patients with BA and 95 healthy individuals. Bcl1 (rs41423247) polymorphism in exon 2 was determined by means of polymerase chain reaction with subsequent RFLP analysis (restriction fragment length polymorphism) by Fleury I. et al. with modifications. Statistical analysis of the results was performed using SPSS-17 program. The results showed statistically significant differences in genotypes distribution of BclI polymorphism of GR gene in the control group and in patients with BA. The frequency of genotypes distribution of Bcl1 polymorphism of GR gene in controls: C/C, C/G, G/G - 0,421/ 0,453/0,126; in patients with bronchial asthma: 0.228/0.426/0.346, respectively (p=0.001). It was found out that G/G-homozygotes have a fivefold higher risk of BA than those homozygous for C/C regardless of gender. We demonstrated that BA risk in females, homozygous for the minor allele, is higher (p=0.016) and men with G/G genotype of Bcl1 GR gene polymorphism have the highest risk of BA. Thus, G/G genotype of Bcl1 polymorphism of the glucocorticoid receptor gene is associated with the development of asthma.
我们研究的目的是调查Bcl1 GR基因多态性的等位基因和基因型频率及其与支气管哮喘患病率的相关性。研究纳入了188例支气管哮喘患者和95名健康个体。采用聚合酶链反应，随后由Fleury I.等人进行改良的限制性片段长度多态性分析（RFLP）来确定外显子2中的Bcl1（rs41423247）多态性。使用SPSS - 17程序对结果进行统计分析。结果显示，对照组和支气管哮喘患者中GR基因BclI多态性的基因型分布存在统计学显著差异。GR基因Bcl1多态性的基因型分布频率在对照组中为：C/C、C/G、G/G - 0.421/0.453/0.126；在支气管哮喘患者中分别为0.228/0.426/0.346（p = 0.001）。研究发现，无论性别如何，G/G纯合子患支气管哮喘的风险比C/C纯合子高五倍。我们证明，携带次要等位基因纯合子的女性患支气管哮喘的风险更高（p = 0.016），并且具有Bcl1 GR基因多态性G/G基因型的男性患支气管哮喘的风险最高。因此，糖皮质激素受体基因Bcl1多态性的G/G基因型与哮喘的发生有关。
