探讨血红素加氧酶-1基因多态性与慢性阻塞性肺疾病的关系

Association between genetic polymorphisms of human Heme Oxygenase-1 and chronic obstructive pulmonary disease

目的:探讨血红素加氧酶-1(HO-1)基因启动子区短串连重复序列的等位基因多态性与慢性阻塞性肺疾病(COPD)易感性之间的关系。方法:采用PCR扩增技术和聚丙烯酰胺凝胶电泳方法分析64例COPD患者和56例健康对照者HO-1基因启动子区GT二核苷酸重复序列的分布。结果:COPD组和对照组在年龄、性别、吸烟指数等方面差异无统计学意义(P>0.05);COPD患者和健康对照者中HO-1基因启动子区L型等位基因频率分别为21.88%和10.72%,两者差异有统计学意义(χ2=7.56,P<0.05);COPD组的1 s用力呼气量(FEV1)和1 s用力呼气量/用力肺活量(FEV1/FVC)分别为(53.56±8.35)%、(49.58±7.02)%,与对照组[FEV1:(87.56±5.65)%、FEV1/FVC:(84.21±6.50)%]相比差异具有统计学意义(P<0.05);在COPD组内,是否吸烟、不同严重程度的肺功能阻塞(轻、中、重度)以及不同年龄组(<60岁组和>60岁组)等情况对HO-1 L等位基因频率分布均无影响(P>0.05)。结论:HO-1基因启动子区短串连重复序列多态性与中国北方汉族人COPD的易感性有关。

Objective： To investigate the relations between the genetic polymorphism of short tandem repeat in human Heine Oxygenase-1 promoter region and susceptibility of chronic obstructive pulmonary disease. Method： The genetypes of 64 patients with COPD and 56 healthy control subjects were tested with polymerase chain reaction and polyacrylamide gel electrophoresis to analysis the distribution of GT repeat in human Heine Oxygenase-1 promoter region. Result： There was no significant difference between COPD patients and control subjects in age, cigarettes years, et al（ P 〉 0.05）, whereas there was significant difference between the two groups about lung function（FEV1 ： 53.56±8.35% vs 87.56 ± 5.65%; FEV1/FVC：49.58 ± 7.02% vs 84.21±6.50% ）; The L type allele frequencies in promoter region between COPD patients and control subjects were 21.88% and 10.72%, χ^2 analysis showed the statistical significance in two groups; In COPD groups, smoking or not, difference of lung function and age （ ≤ 60years and 〉 60 years） had no effects on the L type allele frequencies in promoter region. Conclusion： Genetic polymorphism of short tandem repeat in human Heine Oxygenase-1 promoter region is associated with the development of COPD in Han nationality of North China.