丝氨酸蛋白酶抑制剂 E2(rs16865421) 多态性与维吾尔族人群慢性阻塞性肺疾病的低风险相关：一项病例对照研究。

SERPINE2 rs16865421 polymorphism is associated with a lower risk of chronic obstructive pulmonary disease in the Uygur population: A case-control study.

机构信息

Department of Respiratory and Critical Care Medicine, First People's Hospital of Kashgar, Xinjiang, Kashgar, Xinjiang, China.

Department of Respiratory and Critical Care Medicine, First Affiliated Hospital of Guangzhou Medical University, Guangdong, Guangzhou, Guangdong, China.

出版信息

J Gene Med. 2019 Sep;21(9):e3106. doi: 10.1002/jgm.3106. Epub 2019 Aug 5.

DOI:10.1002/jgm.3106

PMID:31215134

Abstract

BACKGROUND

The present study aimed to investigate the relationship between seven polymorphisms of the serine protease inhibitor-2 (SERPINE2) gene and the risk of chronic obstructive pulmonary disease (COPD) in the Uygur population via a case-control study.

METHODS

In total, 440 Uygur patients with COPD were included in the patient group and 384 healthy individuals were recruited in the matched control group. Data on demographic variables, smoking status, occupational dust exposure history and living conditions were collected. Polymorphism analysis was performed for seven loci of the SERPINE2 gene by mass spectrometry.

RESULTS

The genotype distribution of rs16865421 showed a significant difference between the patient and control groups (p < 0.05). Participants carrying the rs16865421-AG heterozygous mutant genotype had a lower risk of COPD compared to those with the rs16865421-A allele (odds ratio = 0.68, 95% confidence interval = 0.47-0.98, p = 0.041). However, no such association was found for rs1438831, rs6734100, rs6748795, rs7583463, rs840088 and rs975278. No significant interaction was observed between the genotypes and risk factors.

CONCLUSIONS

Polymorphisms of rs16865421-AG carried by the Uygur population may be protective against COPD.

摘要

背景

本研究通过病例对照研究，旨在探讨丝氨酸蛋白酶抑制剂 2（SERPINE2）基因 7 个多态性与维吾尔族人群慢性阻塞性肺疾病（COPD）风险之间的关系。

方法

共纳入 440 例维吾尔族 COPD 患者作为病例组，选择 384 例健康者作为对照组。收集两组患者的人口统计学变量、吸烟史、职业性粉尘暴露史和居住条件等数据。采用质谱法对 SERPINE2 基因的 7 个位点进行多态性分析。

结果

rs16865421 基因型分布在病例组和对照组间存在显著差异（p<0.05）。与 rs16865421-A 等位基因相比，携带 rs16865421-AG 杂合突变基因型的个体发生 COPD 的风险较低（比值比=0.68，95%置信区间=0.47-0.98，p=0.041）。然而，rs1438831、rs6734100、rs6748795、rs7583463、rs840088 和 rs975278 多态性与 COPD 之间未发现关联。各基因型与危险因素之间也未观察到显著的交互作用。