白细胞介素-6基因多态性与慢性阻塞性肺疾病及吸烟因素的相关性研究

目的 探讨白细胞介素（IL）-6启动子区域基因-572C/G单核苷酸多态性与慢性阻塞性肺疾病（COPD）易感性及吸烟因素之间的关系.方法 应用聚合酶链式反应-限制性片段长度多态性（PCR-RFLP）方法,检测并分析COPD患者和健康对照者IL-6-572C/G位点基因型分布情况,同时分析该多态性位点与吸烟相关COPD之间是否存在相关性.结果 中国上海地区汉族人群存在IL-6基因-572C/G多态性；COPD组CG、GG基因型、G等位基因频率均高于对照组（P＜0.01）；基因型频率的相对风险分析发现,CG、GG基因型各自患COPD的风险分别是CC基因型的2.09倍（95％ CI：1.03 ～4.23）和5.44倍（95％ CI：1.20 ～ 24.75）；-572C/G多态性在轻中度、重度COPD组间的分布比较差异无统计学意义；该突变位点与吸烟所致的COPD之间无相关性存在.结论 IL-6基因-572G等位基因可能是中国汉族人COPD发生的易感因子,可能与携带该等位基因的人群存在IL-6水平高表达有关,其基因分布与吸烟相关的COPD无明显相关.

A correlation study of interleukin-6 gene polymorphism and chronic obstructive pulmonary disease and factor of smoking

Objective To explore the relationship between interleukin-6 （IL-6） gene-572C/G polymorphism and susceptibility to chronic obstructive pulmonary disease （COPD） and factor of smoking.Methods We detected Single nucleotide polymorphism site on IL-6-572C ＞ G with PCR-RFLP technology,analyzed the frequencies of genotype and allele in COPD group and control group respectively.We also analyzed the correlation between this polymorphisms site and smoking correlated COPD.Results There was IL-6 gene-572C/G polymorphism in Chinese Hans.-572CG ＋ GG genotype and G allele were more frequent in patients than in controls（P ＜ 0.01）.The relative risk of CG genotype carrier to suffer from COPD was 2.09 times of CC genotype（95％ CI：1.03-4.23）.The relative risk of GG genotype carrier to suffer from COPD was 5.44 times of CC genotype （95％ CI：1.20-24.75）.However,the distribution of IL-6 gene-572C/G polymorphism was no significant difference between mild and severe COPD patients.The mutations has no correlation with smoking induced COPD.Conclusion IL-6 gene-572G allele may be a genetic susceptibility factor to COPD attack of Chinese Han population,and related to the high expression of IL-6.It has no association with the smoking correlated COPD.