Department of Respiration, The First People's Hospital of Xinjiang Kashgar Area, Kashgar, Xinjiang 844000, China.
Chin Med J (Engl). 2018 Mar 20;131(6):684-688. doi: 10.4103/0366-6999.226885.
Previous studies conducted in various geographical and ethnical populations have shown that Alpha-1-antitrypsin (Alpha-1-AT) expression affects the occurrence and progression of chronic obstructive pulmonary disease (COPD). We aimed to explore the associations of rs9944155AG, rs1051052AG, and rs1243166AG polymorphisms in the Alpha-1-AT gene with the risk of COPD in Uygur population in the Kashgar region.
From March 2013 to December 2015, a total of 225 Uygur COPD patients and 198 healthy people were recruited as cases and controls, respectively, in Kashgar region. DNA was extracted according to the protocol of the DNA genome kit, and Sequenom MassARRAY single-nucleotide polymorphism technology was used for genotype determination. Serum concentration of Alpha-1-AT was detected by enzyme-linked immunosorbent assay. A logistic regression model was used to estimate the associations of polymorphisms with COPD.
The rs1243166-G allele was associated with a higher risk of COPD (odds ratio [OR] = 2.039, 95% confidence interval [CI]: 1.116-3.725, P = 0.019). In cases, Alpha-1-AT levels were the highest among participants carrying rs1243166 AG genotype, followed by AA and GG genotype (χ = 11.89, P = 0.003). Similarly, the rs1051052-G allele was associated with a higher risk of COPD (OR = 19.433, 95% CI: 8.783-43.00, P < 0.001). The highest Alpha-1-AT levels were observed in cases carrying rs1051052 AA genotype, followed by cases with AG and GG genotypes (χ = 122.45, P < 0.001). However, individuals with rs9944155-G allele exhibited a lower risk of COPD than those carrying the rs9944155-A allele (OR = 0.121, 95% CI: 0.070-0.209, P < 0.001). In both cases and controls, no significant difference in Alpha-1-AT levels was observed among various rs9944115 genotypes.
rs1243166, rs9944155, and rs1051052 sites of Alpha-1-AT may be associated with the COPD morbidity in Uygur population. While rs1243166-G allele and rs1051052-G allele are associated with an increased risk of developing COPD, rs9944155-G allele is a protect locus in Uygur population. Alpha-1-AT levels in Uygur COPD patients were lower than those in healthy people and differed among patients with different rs1051052 AG and rs1243166 AG genotypes.
先前在不同地理和种族人群中进行的研究表明，α-1-抗胰蛋白酶（Alpha-1-AT）表达影响慢性阻塞性肺疾病（COPD）的发生和进展。我们旨在探讨 Alpha-1-AT 基因中的 rs9944155AG、rs1051052AG 和 rs1243166AG 多态性与喀什地区维吾尔族人群 COPD 风险之间的关联。
2013 年 3 月至 2015 年 12 月，我们共招募了 225 名维吾尔族 COPD 患者和 198 名健康对照作为病例和对照组。根据 DNA 基因组试剂盒的方案提取 DNA，并使用 Sequenom MassARRAY 单核苷酸多态性技术进行基因型确定。通过酶联免疫吸附试验检测 Alpha-1-AT 的血清浓度。使用逻辑回归模型估计多态性与 COPD 的关联。
rs1243166-G 等位基因与 COPD 风险增加相关（比值比[OR] = 2.039，95%置信区间[CI]：1.116-3.725，P = 0.019）。在病例中，携带 rs1243166 AG 基因型的参与者的 Alpha-1-AT 水平最高，其次是 AA 和 GG 基因型（χ=11.89，P=0.003）。同样，rs1051052-G 等位基因与 COPD 风险增加相关（OR = 19.433，95%CI：8.783-43.00，P<0.001）。携带 rs1051052 AA 基因型的病例的 Alpha-1-AT 水平最高，其次是携带 AG 和 GG 基因型的病例（χ=122.45，P<0.001）。然而，携带 rs9944155-G 等位基因的个体患 COPD 的风险低于携带 rs9944155-A 等位基因的个体（OR = 0.121，95%CI：0.070-0.209，P<0.001）。在病例和对照组中，不同 rs9944115 基因型的 Alpha-1-AT 水平没有显著差异。
Alpha-1-AT 的 rs1243166、rs9944155 和 rs1051052 位点可能与维吾尔族人群 COPD 的发病有关。虽然 rs1243166-G 等位基因和 rs1051052-G 等位基因与 COPD 发病风险增加相关，但 rs9944155-G 等位基因是维吾尔族人群的保护基因座。维吾尔族 COPD 患者的 Alpha-1-AT 水平低于健康人群，且不同 rs1051052 AG 和 rs1243166 AG 基因型的患者的 Alpha-1-AT 水平存在差异。
