慢性阻塞性肺疾病患者Nrf2基因多态性与肺功能及临床病情判断的相关性研究

Study on Relevance of Nrf2 Gene Polymorphism with Pulmonary Function and Clinical Condition Judgment in Patients with Chronic Obstructive Pulmonary Disease

目的研究慢性阻塞性肺疾病(chronic obstructive pulmonary disease,COPD)患者核因子相关因子2(nuclear factor erythroid-2-related factor2,Nrf2)基因多态性与肺功能及临床病情判断的相关性。方法收集2018年6月~2020年6月78例COPD患者作为研究对象,采用聚合酶链反应-限制性片段长度多态性(polymerase chain reaction restriction fragment length polymorphism,PCR-RFLP)法检测Nrf2-617C/A(rs6721961)位点基因型分布。比较不同肺功能分级患者Nrf2-617C/A(rs6721961)基因型,分析Nrf2-617C/A(rs6721961)基因型分布与治疗效果的关系。结果78例患者显效48例,有效17例和无效13例,有效率83.33%。Nrf2基因多态性检测结果显示CC型20例,CA型30例,AA型28例。不同疗效COPD患者Nrf2基因型分布比较,差异有统计学意义(P<0.05)。不同Nrf2基因型COPD患者肺功能分级比较,差异有统计学意义(χ^(2)=15.452,P<0.05)。治疗前和治疗后不同Nrf2基因型COPD患者用力肺活量(forced vital capacity,FVC),一秒钟用力呼气量(forced expiratory volume in one second,FEV1%),FEV1/FVC及最大通气量(maximal ventilation volume,MVV)水平比较,差异均有统计学意义(P<0.05)。受试者工作曲线(receiver operator characteristic,ROC)分析显示,Nrf2基因多态性对判断COPD治疗效果的AUC为0.796(SE=0.056,95%CI=0.687~0.905,P<0.001),敏感度0.767,特异度为0.729。结论Nrf2基因多态性与COPD病情相关,其有助于预测临床治疗效果,具有较高应用价值。

Objective To study the relevance of Nuclear factor erythroid-2-related factor2(Nrf2)gene polymorphism with pulmonary function and clinical condition judgment in the patients of chronic obstructive pulmonary disease(COPD).Methods 78 patients with COPD from June 2018 to June 2020 were selected as the research objects,the genotypes of Nrf2-617C/A(rs6721961)were detected by polymerase chain reaction restriction fragment length polymorphism(PCR-RFLP).The Nrf2-617C/A(rs6721961)genotypes were compared among patients with different lung function grades,the relationship between Nrf2-617 C/A(rs6721961)genotype distribution and therapeutic effect were analyzed.Results There were 48 cases of markedly effective,17 cases of effective and 13 cases of ineffective in the 78 cases.The effective rate was 83.33%.The results of Nrf2 gene polymorphism showed that there were 20 cases of CC type,30 cases of CA type and 28 cases of AA type.The distribution of Nrf2 genotypes in COPD patients with different therapeutic effects was significantly different(P<0.05).There was significant difference in lung function grading among different Nrf2 genotype COPD patients(χ^(2)=15.452,P<0.05).There were statistically significant differences in forced vital capacity(FVC),forced expiratory volume in one second(FEV1%),FEV1/FVC and maximal ventilation volume(MVV)in COPD patients with different Nrf2 genotypes before and after treatment(P<0.05).The receiver operator characteristic(ROC)analysis showed that the AUC of Nrf2 gene polymorphism to judge the clinical efficacy was 0.796(SE=0.056,95%CI=0.687~0.905,P<0.001),the sensitivity was 0.767 and specificity was 0.729.Conclusion The Nrf2 gene polymorphism was associated with COPD,which is helpful to predict the clinical therapeutic effect and has high application value.