Nevzorova V A, Vakhrusheva S E, Tilik T V, Isaeva M P
Klin Med (Mosk). 2012;90(7):42-6.
We studied the distribution of deletion polymorphisms of GSTT1 and GSTM1 glutathione transferase genes by PCR in patients with stage I and II chronic obstructive pulmonary disease (COPD) and in smokers without COPD. The significance of the differences in allele and genotype distribution between the groups was estimated by the X2 test and BIOSTAT software package. The study revealed a significant rise in the frequency of deletion polymorphisms of GSTT1 transferase genes in patients with stage I COPD compared with controls. The odd ratio between the groups was 0.6 which suggests a two-fold decrease in the risk of COPD. Simultaneous increase in the frequency of "zero" GSTT1 genotype in patients with stage 2 COPD is indicative of rapid progress of the disease in the presence of homozygous deletion of GSTT1. The difference between the frequency of homozygous deletion of GSTM1 was insignificant. The "zero" GSTT1 genotype in heavy smokers was associated with a decreased risk of COPD and may be regarded as a marker of the diminished impact of smoking on the pulmonary function. The homozygous deletion of GSTT1 in patients at the early stages of COPD suggests the risk of its rapid progress. Deletion polymorphism of GSTT1 glutathione transferase gene is recommended to use as a marker for predictive diagnostics of development and progress of COPD.
我们通过聚合酶链反应（PCR）研究了I期和II期慢性阻塞性肺疾病（COPD）患者以及无COPD的吸烟者中谷胱甘肽S-转移酶T1（GSTT1）和谷胱甘肽S-转移酶M1（GSTM1）基因缺失多态性的分布情况。通过X²检验和BIOSTAT软件包评估了各组间等位基因和基因型分布差异的显著性。研究发现，与对照组相比，I期COPD患者中GSTT1转移酶基因缺失多态性的频率显著升高。两组间的比值比为0.6，这表明患COPD的风险降低了两倍。同时，II期COPD患者中“零”GSTT1基因型频率的增加表明在存在GSTT1纯合缺失的情况下疾病进展迅速。GSTM1纯合缺失频率的差异不显著。重度吸烟者中的“零”GSTT1基因型与患COPD的风险降低相关，可被视为吸烟对肺功能影响减弱的一个标志物。COPD早期患者中GSTT1的纯合缺失提示其疾病快速进展的风险。建议将GSTT1谷胱甘肽转移酶基因的缺失多态性用作COPD发生和进展的预测诊断标志物。
