谷胱甘肽转硫酶M1和T1基因型与高原反应的危险性

Glutathione S-transferase M1,T1 genotypes and the risk of mountain sickness

目的探讨谷胱甘肽转硫酶M1、T1基因型(GSTM1、GSTT1)与高原反应危险性的关系。方法从同一生活和工作环境中选取123名男性武警战士作为调查对象,根据是否发生急性高原反应,将其分成病例组和对照组,其中病例组43人、对照组80人。基因组DNA来自研究对象提供的外周血有核细胞,采用多重聚合酶链反应(PCR)方法对这些武警战士的谷胱甘肽转硫酶M1和T1基因进行分型。结果病例组GSTT1非缺失型基因频率为69.8%,明显高于正常对照组(42.5%),差异有统计学意义(P=0.004,OR=3.12,95%CI为1.42～6.86)。两组GSTM1缺失型基因频率分别为72.1%和52.5%,差异有统计学意义(P=0.03,OR=2.34,95%CI为1.05～5.02)。GSTT1阴性GSTM1阴性基因型者发生高原反应的危险性比携带GSTT1阴性GSTM1阳性者高5倍(OR=5.04;95%CI为1.00～25.3)。结论谷胱甘肽转硫酶M1、T1基因多态性与高原反应危险性有关。

Objective To explore the relationship between genetic polymorphisms of glutathione S-transferase(GST) M1,T1 and susceptibility to mountain sickness. Methods Forty-three soldiers with acute mountain sickness and 80 healthy soldiers matching with sex/age and training under the same condition were divided into case group and control group.A multiple polymerase chain reaction method was used to detect GSTM1 and GSTT1 genes in genomic DNA isolated from peripheral blood cells from both cases and controls. Results The frequency of the GSTT1 positive genotype was significantly higher in cases(69.8%) than in controls(42.5%)(P=0.004,OR=3.12,95%CI 1.42～6.86).The frequency of GSTM1 negative genotype was also higher in cases(72.1%) than in controls(52.5%)(P=0.03,OR= 2.34,95%CI 1.05～5.02).Persons with both GSTM1 and GSTT1 negative genotypes had 5-fold more risk than those with GSTT1 megative and GSTM1 positive genotypes in developing mountain sickness(OR=5.04,95%CI:1.00～25.3). Conclusion Genetic polymorphisms of glutathione S-transferase M1,T1 may be the risk factors in the development of mountain sickness.