血红素氧化酶基因启动子多态性与慢性阻塞性肺疾病及胸部CT表现的关系

目的 探讨中国西南地区汉族人群血红素氧化酶(HOX)-1基因启动子多态性与慢性阻塞性肺疾病(COPD)易感性及胸部CT表现的关系.方法 应用微卫星片段分析法,分析HOX-1基因型在180例COPD吸烟者和150例健康吸烟者中的分布频率;然后对180例COPD患者通过胸部CT检查进行分型;最后分析HOX-1基因型和COPD患者的胸部CT分型之间的关系.结果 根据HOX-1基因启动子(GT)n重复片段大小,将HOX-1等位基因分为三种类型:S等位基因(≤25个GT重复片段)、M等位基因(26～31个GT重复片段)和L等位基因(≥32个GT重复片段);再根据是否含有L等位基因,将HOX-1基因分为两类基因型,Ⅰ类:包含有L等位基因(S/L,M/L,L/L);Ⅱ类:不包含有L等位基因(S/S,S/M,M/M).研究发现:HOX-1基因型中Ⅰ类基因型在COPD吸烟者中的分布显著高于健康吸烟者(29.4%VS 18.7%,P=0.023,OR=1.8,95%CI 1.1～3.1),但是,携带不同HOX-1基因型(Ⅰ类和Ⅱ类)的两组COPD患者,比较其胸部CT表现分型差异无统计学意义.结论HOX-1基因遗传多态性在中国西南地区汉族人群中与COPD的易感性有关,而且,包含有HOX-1 Ⅰ类基因型的个体更易感COPD.但是,HOX-1基因多态性并不会影响COPD患者在胸部CT影像学上的表现分型.

Correlation of polymorphism of heme oxygenase-1 gene promoter with chronic obstructive pulmonary disease and CT manifestation

Objective To investigate the correlation between the mierosatellite polymorphism of heme oxygenase-1(HOX-1)gene promoter and susceptibility to chronic obstructive pulmonary disease(COPD)in Han nationality of Southwest China and CT imaging.Method The alleles frequencies with varying number of(GT)n repeatings in the Hox-1 gene in 180 smokers with COPD and in 150 healthy smokers were analyzed.Results Polymorphisms of the(GT)n repeats were grouped into three classes:S(≤25 repeats),M(26-31 repeats),L(≥32repeats).The proportion of genotypic frequencies in the group with class L alleles(L/S,L/M,I/L)was significantly higher in the smokers with COPD than in healthy smokers(29.4%vs18.7%,P=0.023,OR=1.8,95%CI 1.1-3.1).However,there was no relationship between the polymorphism of HOX-1 gene and subtypes of COPD by CT imaging in COPD patients(P＞0.05).Conclusion Genetic polymorphism in Hox-1 is associated with development of COPD in Han nationality of Southwest China.But the polymorphism of HOX-1 gene is not associated with subtypes of COPD by CT imaging.