Department of Pulmonary and Critical Care Medicine, Sinopharm Tongmei General Hospital, Datong, China.
Eur Rev Med Pharmacol Sci. 2022 Aug;26(16):5821-5828. doi: 10.26355/eurrev_202208_29521.
COPD is a complex respiratory disease characterized by chronic airway inflammation and the airflow limitations are not fully reversible due to the combination of genetic and environmental factors. Genetic factors such as polymorphisms, may affect the susceptibility of COPD. In the present study, we examined the association between the polymorphisms of three genes and COPD risk in a Chinese Han population.
A total of 375 COPD patients and 284 control subjects were recruited from November 2018 to June 2021. Data on demographic basic information, smoking status, history of coal dust exposure, and peripheral blood were collected from subjects of two groups. Three polymorphisms (NLRP3 rs1539019, LAMB1 rs4320486, IL-6 rs1800796) were analyzed. Logistic analysis was used to evaluate the genetic contribution of selected SNPs to COPD susceptibility.
The AC genotype of NLRP3 rs1539019 significantly decreased COPD risk compared with CC genotype (adjusted OR = 0.508, 95% CI 0.336-0.767). In the stratification analyses, the AC genotype significantly decreased the risk of COPD in subjects aged 60 and over (p=0.005; adjusted OR = 0.553; 95% CI 0.366-0.835) with current smoking status (p=0.002; adjusted OR = 0.419; 95% CI 0.240-0.732) when compared with AA+CC genotype. Moreover, a significantly decreased risk for GOLD III COPD was found in genotype AC of NLRP3 rs1539019 (p=0.006; adjusted OR = 0.502; 95% CI 0.306-0.822).
Our present study revealed that the genotype AC of NLRP3 rs1539019 is related to a decreased risk of COPD in a Chinese Han population, a large-sample, multi-center, multi-ethnic study is needed to further confirm our study.
COPD 是一种复杂的呼吸系统疾病,其特征为慢性气道炎症,并且由于遗传和环境因素的综合作用,气流受限不完全可逆。遗传因素,如多态性,可能会影响 COPD 的易感性。在本研究中,我们在中国汉族人群中研究了三个基因的多态性与 COPD 风险的关系。
本研究共纳入了 2018 年 11 月至 2021 年 6 月期间的 375 例 COPD 患者和 284 例对照者。收集了两组人群的人口统计学基本信息、吸烟状况、煤尘暴露史和外周血等数据。分析了三个多态性(NLRP3 rs1539019、LAMB1 rs4320486、IL-6 rs1800796)。使用 logistic 分析评估所选 SNP 对 COPD 易感性的遗传贡献。
与 CC 基因型相比,NLRP3 rs1539019 的 AC 基因型显著降低 COPD 发病风险(调整 OR = 0.508,95%CI 0.336-0.767)。在分层分析中,与 AA+CC 基因型相比,AC 基因型在年龄 60 岁及以上(p=0.005;调整 OR = 0.553;95%CI 0.366-0.835)和当前吸烟状态(p=0.002;调整 OR = 0.419;95%CI 0.240-0.732)的人群中,显著降低了 COPD 的发病风险。此外,NLRP3 rs1539019 的基因型 AC 与 GOLD III COPD 的发病风险降低显著相关(p=0.006;调整 OR = 0.502;95%CI 0.306-0.822)。
本研究表明 NLRP3 rs1539019 的基因型 AC 与中国汉族人群 COPD 发病风险降低有关,需要更大样本量、多中心、多民族的研究来进一步证实我们的研究结果。