Zheng Yamei, Zhao Jie, Liu Meihua, Liu Yunchan, Ding Yipeng, Xie Tian
Department of Respiratory and Critical Care Medicine, Hainan General Hospital, Hainan Affiliated Hospital of Hainan Medical University, Haikou, Hainan, China.
Ann Med. 2025 Dec;57(1):2474726. doi: 10.1080/07853890.2025.2474726. Epub 2025 Mar 12.
Chronic obstructive pulmonary disease (COPD) is a leading cause of morbidity and mortality among the elderly in China. Genetic predisposition is a recognized risk factor for COPD, with emerging as a promising candidate gene due to its involvement in smoking behavior and lung function. This study aimed to investigate the association between eight SNPs and COPD susceptibility in the Chinese elderly population.
A total of 270 COPD patients and 271 healthy controls were included in the study. SNP genotyping was carried out using the Agena MassARRAY platform. Logistic regression analysis was employed to calculate odds ratios (ORs) and 95% confidence intervals (CIs) to assess the association between the SNPs and COPD risk. Forest plots were generated using Sangerbox software to visually represent the association results. Additionally, haplotype blocks were constructed using Haploview 4.2 software to explore the potential impact of haplotypes on COPD risk.
Our findings indicated that rs615470, rs660652, and rs472054 are associated with a reduced risk of COPD, while rs8040868 is associated with an increased risk. Linkage disequilibrium (LD) analysis identified a haplotype block encompassing rs76071148, rs615470, rs660652, rs472054 and rs578776. Notably, the haplotype TTAAG was associated with a reduced risk of COPD.
This study provides valuable insights into the genetic susceptibility of COPD among the elderly, particularly regarding the role of SNPs in . These findings contribute to a deeper understanding of the pathogenesis of COPD and may facilitate the discovery of novel therapeutic targets for COPD.
慢性阻塞性肺疾病（COPD）是中国老年人发病和死亡的主要原因。遗传易感性是公认的COPD危险因素，由于其参与吸烟行为和肺功能，已成为一个有前景的候选基因。本研究旨在调查中国老年人群中8个单核苷酸多态性（SNP）与COPD易感性之间的关联。
本研究共纳入270例COPD患者和271例健康对照。使用Agena MassARRAY平台进行SNP基因分型。采用逻辑回归分析计算比值比（OR）和95%置信区间（CI），以评估SNP与COPD风险之间的关联。使用Sangerbox软件生成森林图，直观呈现关联结果。此外，使用Haploview 4.2软件构建单倍型块，以探索单倍型对COPD风险的潜在影响。
我们的研究结果表明，rs615470、rs660652和rs472054与COPD风险降低相关，而rs8040868与风险增加相关。连锁不平衡（LD）分析确定了一个包含rs76071148、rs615470、rs660652、rs472054和rs578776的单倍型块。值得注意的是，单倍型TTAAG与COPD风险降低相关。
本研究为老年人COPD的遗传易感性提供了有价值的见解，特别是关于SNP在……中的作用。这些发现有助于更深入地了解COPD的发病机制，并可能促进COPD新治疗靶点的发现。
