RARB genetic variants might contribute to the risk of chronic obstructive pulmonary disease based on a case-control study.

Annals of medicine Pub Date : 2025-12-01 Epub Date: 2024-12-26 DOI:10.1080/07853890.2024.2445195
Linhui Huang, Wenya Xu, Yihui Fu, Zehua Yang, Rubing Mo, Yipeng Ding, Tian Xie
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Abstract

Background: 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.

Methods: 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.

Results: Our study found a significant association between rs6799734 and COPD susceptibility (OR 1.88, p = 0.008, p (FDR) = 0.047). The stratified analysis revealed that this association was particularly pronounced among individuals aged ≤ 71 years (OR 2.34, p = 0.011, p (FDR) = 0.045), males (OR 2.60, p = 0.002, p (FDR) = 0.013), those with a BMI ≥ 24 (OR 3.95, p = 0.018, p (FDR) = 0.108), and smokers (OR 2.48, p = 0.020, p (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 RARB expression.

Conclusion: Our findings suggest a potential role of RARB SNPs in influencing COPD risk.

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基于一项病例对照研究,RARB基因变异可能增加慢性阻塞性肺疾病的风险。
背景:慢性阻塞性肺疾病(COPD)是一种严重损害患者呼吸功能和生活质量的进行性呼吸系统疾病。RARB通过影响炎症反应、细胞增殖和凋亡参与COPD的进展。RARB中单核苷酸多态性(snp)对COPD易感性的影响尚不清楚。在这里,我们旨在评估RARB snp与COPD风险之间的关系。方法: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。采用logistic回归分析对相关性进行分析。假阳性报告概率(FPRP)分析验证了显著的发现。使用GTEx数据库评估snp与RARB表达之间的关系。结果:我们的研究发现rs6799734与COPD易感性之间存在显著相关性(OR 1.88, p = 0.008, p (FDR) = 0.047)。分层分析显示,这种关联在年龄≤71岁(OR 2.34, p = 0.011, p (FDR) = 0.045)、男性(OR 2.60, p = 0.002, p (FDR) = 0.013)、BMI≥24 (OR 3.95, p = 0.018, p (FDR) = 0.108)和吸烟者(OR 2.48, p = 0.020, p (FDR) = 0.120)中尤为明显。此外,rs1286641和rs1881706与女性和吸烟者COPD风险显著相关。FPRP分析进一步证实了这些关联。初步机制研究表明,rs1286641和rs1881706与RARB表达有关。结论:我们的研究结果提示RARB snp在影响COPD风险中的潜在作用。
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