白介素6基因多态性与慢性阻塞性肺疾病的相关性研究

目的探讨白细胞介素6（Interleukin-6，IL-6）基因0572C／G单核苷酸多态性与慢性阻塞性肺疾病（chronic obstructive pulmonary disease, COPD）易感性的关系。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192例COPD患者和195例健康体检者IL-6基因启动子区域-572C／G位点基因型分布情况，观察该位点基因多态性是否与COPD患者肺功能的程度存在相关。结果两组人群均存在IL-6基因-572C／G多态性；两组人群基因型、等位基因频率差异存在显著统计学意义，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组间的分布差异无统计学意义（P〉0．05）。结论IL-6基因-572C／G多态性可能与COPD易感性相关，该位点携带G等位基因的人群可能更容易发生COPD。

Association between interleukin-6 gene polymorphism and susceptibility to chronic obstructive pulmonary disease

Objective To investigate the association of interleukin-6 （IL-6）gene -572C/G polymorphism with susceptibility to chronic obstructive pulmonary disease （COPD）. Methods IL-6 gene -572C/G polymorphism was genotyped with PCR-RFLP method in 192 COPD patients and 195 healthy subjects. The association of genetic polymorphism of IL-6 gene with the degree of airway obstruction was analyzed. Results The -572 CG ＋ GG genotype and G allele were more frequent in COPD patients than those in healthy controls（P 〈0.01 ）. The relative risk of genotypes CG and GG forCOPDwas2.09（95%CI： 1.03 -4.23）and 5.44 （95%CI： 1.20-24.75）to genotype CC, respectively. However, the distribution of IL-6 gene -572C/G polymorphism was not correlated with the degree of severity of COPD patients （ P 〉 0.05 ）. Conclusion IL-6 gene -572G allele may be associated with susceptibility to COPD.