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Association of AGER genetic variants with chronic obstructive pulmonary disease susceptibility in Southern Chinese Han populations

Year: 2025

Type: article

Abstract: Objective Chronic obstructive pulmonary disease (COPD) remains a leading cause of disability and mortality among elderly populations. Studies indicate that AGER plays a critical regulatory role in the pathogenesis of respiratory disorders. However, the genetic variations in AGER to COPD susceptibility remain incompletely understood. This study employs a case–control design to investigate associations between AGER genetic variants and COPD risk in the Southern Chinese Han population.Methods This study enrolled 270 COPD patients and 271 healthy controls. AGER single-nucleotide polymorphisms (SNPs) were analysed using the MassARRAY iPLEX platform. Logistic regression models evaluated associations between AGER polymorphisms and COPD susceptibility, with false discovery rate (FDR) correction applied to mitigate multiple testing errors. SNP–SNP interactions were investigated through multifactor dimensionality reduction (MDR) analysis. Expression quantitative trait locus (eQTL) data from the GTEx database were further analysed to assess regulatory relationships between SNPs and AGER gene expression levels.Results This study showed that rs3134941 (G allele, OR = 0.21, 95% CI = 0.10–0.41, p (FDR) = 0.001) and rs3131300 (G allele, OR = 0.32, 95% CI = 0.20–0.49, p (FDR) = 0.0001) were significantly associated with a reduced susceptibility to COPD. MDR indicated that rs3131300 was the optimal predictive model for COPD risk. Additionally, initial mechanistic investigations utilizing the GTEx database identify rs3134941 (C > G) and rs3131300 (A > G) as significant expression quantitative trait loci for AGER mRNA in cell-cultured fibroblasts and whole blood.Conclusion Our study demonstrated that AGER genetic variants might play a protective role in the progression of COPD.

Source: Annals of Medicine

DOI: 10.1080/07853890.2025.2548974

Authors: Tian Xie, Wei Xiao, Jie Zhao, Yamei Zheng, Yipeng Ding, Min Zeng

Institutions: Hainan General Hospital, Hainan Medical University

Language: English

Topic: Chronic Obstructive Pulmonary Disease (COPD) Research

Subfield: Pulmonary and Respiratory Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,557