Huang Linhui, Xu Wenya, Fu Yihui, Yang Zehua, Mo Rubing, Ding Yipeng, Xie Tian
Department of Pulmonary and Critical Care Medicine, Hainan General Hospital, Hainan Affiliated Hospital of Hainan Medical University, Haikou, China.
Department of General Practice, Hainan General Hospital, Hainan Affiliated Hospital of Hainan Medical University, Haikou,China.
Ann Med. 2025 Dec;57(1):2445195. doi: 10.1080/07853890.2024.2445195. Epub 2024 Dec 26.
Chronic obstructive pulmonary disease (COPD) is a progressive respiratory disease that severely impairs patients' respiratory function and quality of life. RARB is involved in COPD progression by affecting inflammatory reactions, cell proliferation, and apoptosis. The impact of single nucleotide polymorphisms (SNPs) within RARB on COPD susceptibility remains unclear. Here, we aimed to evaluate the association between RARB SNPs and COPD risk.
A total of 270 COPD patients and 271 healthy controls were enrolled. The MassARRAY iPLEX platform tested the genotype of the SNPs. The association was analyzed using logistic regression analysis. The false-positive report probability (FPRP) analysis was performed to validate the significant findings. The relationship between SNPs and RARB expression was evaluated using the GTEx database.
Our study found a significant association between rs6799734 and COPD susceptibility (OR 1.88, = 0.008, (FDR) = 0.047). The stratified analysis revealed that this association was particularly pronounced among individuals aged ≤ 71 years (OR 2.34, = 0.011, (FDR) = 0.045), males (OR 2.60, = 0.002, p (FDR) = 0.013), those with a BMI ≥ 24 (OR 3.95, = 0.018, (FDR) = 0.108), and smokers (OR 2.48, = 0.020, (FDR) = 0.120). Additionally, rs1286641 and rs1881706 showed significant associations with COPD risk in females and smokers. These associations were further validated by FPRP analysis. Preliminary mechanism studies indicated that rs1286641 and rs1881706 were related to expression.
Our findings suggest a potential role of RARB SNPs in influencing COPD risk.
慢性阻塞性肺疾病（COPD）是一种进行性呼吸系统疾病，严重损害患者的呼吸功能和生活质量。视黄酸受体β（RARB）通过影响炎症反应、细胞增殖和凋亡参与COPD的进展。RARB内单核苷酸多态性（SNP）对COPD易感性的影响尚不清楚。在此，我们旨在评估RARB SNP与COPD风险之间的关联。
共纳入270例COPD患者和271例健康对照。MassARRAY iPLEX平台检测SNP的基因型。使用逻辑回归分析进行关联分析。进行假阳性报告概率（FPRP）分析以验证显著结果。使用GTEx数据库评估SNP与RARB表达之间的关系。
我们的研究发现rs6799734与COPD易感性之间存在显著关联（比值比1.88，P = 0.008，校正后P（FDR）= 0.047）。分层分析显示，这种关联在年龄≤71岁的个体（比值比2.34，P = 0.011，校正后P（FDR）= 0.045）、男性（比值比2.60，P = 0.002，校正后P（FDR）= 0.013）、体重指数≥24的个体（比值比3.95，P = 0.018，校正后P（FDR）= 0.108）和吸烟者（比值比2.48，P = 0.020，校正后P（FDR）= 0.120）中尤为明显。此外，rs1286641和rs1881706在女性和吸烟者中与COPD风险显示出显著关联。这些关联通过FPRP分析得到进一步验证。初步机制研究表明，rs1286641和rs1881706与RARB表达有关。
我们的研究结果表明RARB SNP在影响COPD风险方面具有潜在作用。
