鐘雪梅+李黎+米熱班·熱夏提

摘 要：目的 探討α1-抗胰蛋白酶水平以及其基因位點rs1243166多態(tài)性與喀什地區(qū)維吾爾族慢性阻塞性肺疾病的關(guān)系。方法 采集429例維吾爾族人群血標(biāo)本，其中227例COPD患者作為病例組，202例健康維吾爾族體檢者作為對照組，利用α1-抗胰蛋白酶檢測試劑盒檢測α1-抗胰蛋白酶水平，MassARRAYiPLEX單堿基延伸技術(shù)進行基因檢測，對最終檢測結(jié)果進行？字2檢驗，采用單因素的logistic回歸對不同基因型進行危險因素分析。結(jié)果 病例組和對照組α1-抗胰蛋白酶水平，差異有統(tǒng)計學(xué)意義（P<0.05），Rs1243166位點基因型和等位基因頻率在病例組和對照組中分布比較，有統(tǒng)計學(xué)意義（P<0.05）。人群攜帶rs1243166-GG基因型患COPD的風(fēng)險是攜帶rs1243166-AA基因型的 2.039倍，攜帶rs1243166-GA基因型的人群患COPD的風(fēng)險是攜帶rs1243166-AA基因型人群的1.875倍。結(jié)論 α1-抗胰蛋白酶與COPD相關(guān)， rs1243166基因位點與COPD的易感性有關(guān)，人群攜帶rs1243166-GG基因型和rs1243166-GA基因型有較高的患病風(fēng)險。

關(guān)鍵詞：α1-抗胰蛋白酶；單核酸基因多態(tài)性；維吾爾族；慢性阻塞性肺疾病

中圖分類號：R563 文獻標(biāo)識碼：A DOI：10.3969/j.issn.1006-1959.2018.02.023

文章編號：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?。╟hronic obstructive pulmonary diseases，COPD）是常見的慢性呼吸系統(tǒng)疾病，發(fā)病機制比較復(fù)雜，受遺傳因素、環(huán)境因素等多種因素的影響，其中吸煙被認為是COPD的最重要的危險因素，但是在吸煙者中也僅有15%～20%的可以發(fā)展成有癥狀的COPD，且發(fā)病呈家族聚集傾向，故認為COPD發(fā)病是基因多態(tài)性和環(huán)境因素共同作用的結(jié)果[1]?，F(xiàn)有研究發(fā)現(xiàn)許多與COPD相關(guān)的候選基因，其中α1-抗胰蛋白酶的缺乏與肺氣腫的發(fā)生有著明顯的相關(guān)性[2]。研究顯示約1%～2%的COPD是由αl-AT遺傳缺陷所引起[3]。α1-抗胰蛋白酶（α1-AT）又稱酯酶抑制劑1基因（proteaseinhi-bitor 1，PI）。αl-AT基因位于14q32.1，編碼絲氨酸蛋白酶抑制劑[4]，主要通過抑制蛋白水解來保護肺。本研究旨在探討α1-抗胰蛋白酶水平及其基因位點rs1243166基因多態(tài)性與喀什地區(qū)維吾爾族慢性阻塞性肺疾病的關(guān)系，現(xiàn)報道如下。endprint