摘要：目的：研究核因子E2相关因子2（NRF2）启动子区基因多态性与世居喀什地区维吾尔族慢性阻塞性肺疾病（COPD）的相关性。方法?：选取2017年9月～2019年9月于喀什地区第一人名医院呼吸科门诊、急诊收治的世居喀什维吾尔族COPD患者200例纳入研究对象，设为病例组；另外选取同期收治的体检健康志愿者300例纳入研究对象，设为对照组。两组入院后均抽取血液标本3 mL，检测NRF2基因rs6706649位点多态性，并统计两组基础资料信息，包括年龄、性别、体质量指数（BMI）、居住地区、文化程度及有无吸烟史、饮酒史、COPD家族史、个人呼吸道疾病史、有害气体或粉尘接触史。对比两组基础资料信息及NRF2基因rs6706649位点基因型及等位基因频率分布差异，并将两组有显著性差异的临床信息纳入Logistic回归分析模型，行量化赋值后明确世居喀什地区维吾尔族COPD发生的独立危险因素。结果?：两组性别、BMI、居住地区、文化程度对比差异无统计学意义（P＞0.05）；病例组年龄≥60岁、吸烟史、饮酒史、COPD家族史、个人呼吸道疾病史、有害气体或粉尘接触史、携带NRF2基因rs6706649位点CT和TT基因型及T等位基因占比显著高于对照组，差异有统计学意义（P＜0.05）。经Logistic回归分析证实，年龄、吸烟史、饮酒史、COPD家族史、个人呼吸道疾病史、有害气体或粉尘接触史及携带NRF2基因rs6706649位点CT、TT基因型及T等位基因为世居喀什地区维吾尔族COPD发生的危险因素（P＜0.05）。结论：世居喀什地区维吾尔族人群COPD的发生因素较多，其中NRF2基因rs6706649位点多态性与疾病的发生关系密切，值得关注。

Abstract：Objective：To study the relationship between the gene polymorphism of nuclear factor E2 related factor 2 (NRF2) promoter region and chronic obstructive pulmonary disease (COPD) in Uygur people who lived in Kashgar. Methods：From September 2017 to September 2019, 200 patients with COPD of Uygur nationality who lived in Kashgar from September 2017 to September 2019 in the respiratory department outpatient department and emergency department of the first person hospital in Kashgar were selected as the research objects and set as the case group; In addition, 300 healthy physical examination volunteers admitted in the same period were selected as the study subjects and set as the control group. Two groups after admission all draw blood specimens of 3 mL, detect rs6706649 NRF2 gene loci polymorphism, and statistics of two groups of basic data information, including age, sex, body mass index (BMI), living area, culture degree and the presence of smoking history, drinking history, family history, personal history of respiratory disease, COPD and harmful gases or dust exposure. The basic data information of the two groups and the genotype and allele frequency distribution differences of NRF2 gene RS6706649 were compared, and the clinical information with significant differences between the two groups was incorporated into the Logistic regression analysis model, and the independent risk factors for COPD of Uygur nationality living in Kashgar were determined after quantitative evaluation. Results：There was no significant difference in gender, BMI, living area and education level between the two groups (P>0.05); The age ≥ 60 years old, smoking history, drinking history, COPD family history, personal respiratory disease history, harmful gas or dust exposure history, the proportion of CT and TT genotypes and t alleles carrying NRF2 gene rs6706649 in the case group were significantly higher than those in the control group (P<0.05). Logistic regression analysis confirmed that age, smoking history, drinking history, family history of COPD, personal history of respiratory diseases, history of exposure to harmful gas or dust, and carrying NRF2 gene RS6706649, CT, TT genotype and T allele were risk factors for the occurrence of COPD among Uygur people living in Kashi region (P<0.05). Conclusion：There are many factors contributing to the occurrence of COPD among the Uighur population living in Kashgar, among which the polymorphism of NRF2 gene RS6706649 is closely related to the occurrence of the disease, which is worthy of attention. Keywords：Chronic obstructive pulmonary disease; Nuclear?factor?erythroid-2?related?factor?2; Uygur; Risk factors

基金项目名称：新疆自然科学基金项目 项目编号：2017D01C009