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

OBJECTIVE

Chronic obstructive pulmonary disease (COPD) remains a leading cause of disability and mortality among elderly populations. Studies indicate that plays a critical regulatory role in the pathogenesis of respiratory disorders. However, the genetic variations in to COPD susceptibility remain incompletely understood. This study employs a case-control design to investigate associations between genetic variants and COPD risk in the Southern Chinese Han population.

METHODS

This study enrolled 270 COPD patients and 271 healthy controls. single-nucleotide polymorphisms (SNPs) were analysed using the MassARRAY iPLEX platform. Logistic regression models evaluated associations between 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 gene expression levels.

RESULTS

This study showed that rs3134941 (G allele, OR = 0.21, 95% CI = 0.10-0.41, (FDR) = 0.001) and rs3131300 (G allele, OR = 0.32, 95% CI = 0.20-0.49, (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 mRNA in cell-cultured fibroblasts and whole blood.

CONCLUSION

Our study demonstrated that genetic variants might play a protective role in the progression of COPD.