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目的探讨沈阳市汉族人群细胞色素P450酶1A2(CYP1A2)基因多态性与慢性阻塞性肺疾病(COPD)遗传易感性的关系。方法采用聚合酶链反应-限制性片段长度多态性(PCR-RELP)方法检测100例COPD患者和年龄、性别匹配的100名健康人CYP1A2基因不同位点多态性等位基因及基因型频率分布。结果两组不同位点多态性基因型频率分布均符合遗传性Hardy-Weinberg平衡(均P>0.05)。COPD患者和健康人的1D和1F基因型和等位基因频率分布有显著性差异(P<0.05),1C和1E基因型和等位基因频率分布无显著性差异(P>0.05)。结论 CYP1A2基因1D和1F多态性可能与COPD遗传易感性增加有关。
Objective To investigate the relationship between CYP1A2 gene polymorphism and genetic susceptibility to chronic obstructive pulmonary disease (COPD) in Han nationality in Shenyang city. Methods The polymorphism alleles and genotypes of CYP1A2 gene in 100 COPD patients and 100 age-and sex-matched healthy individuals were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RELP) distributed. Results The frequency distribution of genotypes at two different loci was in accordance with the Hardy-Weinberg equilibrium (all P> 0.05). The frequencies of genotypes and alleles of 1D and 1F in COPD patients and healthy people were significantly different (P <0.05), but there was no significant difference in genotypes and alleles frequencies of 1C and 1E (P> 0.05). Conclusion The 1D and 1F polymorphisms of CYP1A2 gene may be related to the increased genetic susceptibility to COPD.