α1—抗胰蛋白酶与维吾尔族慢性阻塞性肺疾病的相关性分析

钟雪梅+李黎+米热班·热夏提

摘 要：目的 探讨α1-抗胰蛋白酶水平以及其基因位点rs1243166多态性与喀什地区维吾尔族慢性阻塞性肺疾病的关系。方法 采集429例维吾尔族人群血标本，其中227例COPD患者作为病例组，202例健康维吾尔族体检者作为对照组，利用α1-抗胰蛋白酶检测试剂盒检测α1-抗胰蛋白酶水平，MassARRAYiPLEX单碱基延伸技术进行基因检测，对最终检测结果进行？字2检验，采用单因素的logistic回归对不同基因型进行危险因素分析。结果 病例组和对照组α1-抗胰蛋白酶水平，差异有统计学意义（P<0.05），Rs1243166位点基因型和等位基因频率在病例组和对照组中分布比较，有统计学意义（P<0.05）。人群携带rs1243166-GG基因型患COPD的风险是携带rs1243166-AA基因型的 2.039倍，携带rs1243166-GA基因型的人群患COPD的风险是携带rs1243166-AA基因型人群的1.875倍。结论 α1-抗胰蛋白酶与COPD相关， rs1243166基因位点与COPD的易感性有关，人群携带rs1243166-GG基因型和rs1243166-GA基因型有较高的患病风险。

关键词：α1-抗胰蛋白酶；单核酸基因多态性；维吾尔族；慢性阻塞性肺疾病

中图分类号：R563 文献标识码：A DOI：10.3969/j.issn.1006-1959.2018.02.023

文章编号：1006-1959（2018）02-0067-04

Abstract：Objective To investigate the relationship between α1-antitrypsin level and rs1243166 polymorphism and Uygur chronic obstructive pulmonary disease in Kashgar region.Methods Blood samples were collected from 429 Uygur people，including 227 COPD patients as the case group and 202 healthy Uygur people as the control group.Using α 1-antitrypsin detection kit to detect α 1-antitrypsin level，MassARRAYiPLEX single base extension technique was used to detect the gene， and the final results were tested by X2.Single factor logistic regression was used to analyze the risk factors of different genotypes.Results The levels of α 1-antitrypsin in the case group and the control group were significantly different（P<0.05）.The genotypes and allelic frequencies of Rs1243166 locus were compared between the case group and the control group.There was a statistically significant difference（P<0.05）.The risk of people carrying rs1243166-GG genotype with COPD is 2.039 times of carrying rs1243166-AA genotype，the risk of carrying rs1243166-GA genotype COPD prevalence is 1.875 times of carrying rs1243166-AA genotype groups.Conclusion α1-antitrypsin is associated with COPD and rs1243166 locus is associated with COPD susceptibility.People with rs1243166-GG genotype and rs1243166-GA genotype have a higher prevalence.

Key words：α1-antitrypsin；Single nucleotide polymorphism；Uygur；Chronic obstructive pulmonary disease

慢性阻塞性肺疾病（chronic obstructive pulmonary diseases，COPD）是常見的慢性呼吸系统疾病，发病机制比较复杂，受遗传因素、环境因素等多种因素的影响，其中吸烟被认为是COPD的最重要的危险因素，但是在吸烟者中也仅有15%～20%的可以发展成有症状的COPD，且发病呈家族聚集倾向，故认为COPD发病是基因多态性和环境因素共同作用的结果[1]。现有研究发现许多与COPD相关的候选基因，其中α1-抗胰蛋白酶的缺乏与肺气肿的发生有着明显的相关性[2]。研究显示约1%～2%的COPD是由αl-AT遗传缺陷所引起[3]。α1-抗胰蛋白酶（α1-AT）又称酯酶抑制剂1基因（proteaseinhi-bitor 1，PI）。αl-AT基因位于14q32.1，编码丝氨酸蛋白酶抑制剂[4]，主要通过抑制蛋白水解来保护肺。本研究旨在探讨α1-抗胰蛋白酶水平及其基因位点rs1243166基因多态性与喀什地区维吾尔族慢性阻塞性肺疾病的关系，现报道如下。endprint