Work

Association of FAM13A single-nucleotide polymorphism with spirometry indices and pulmonary ventilation characteristics in patients with chronic obstructive pulmonary disease

Year: 2025

Type: article

Abstract: Objectives Genome-wide association studies have identified FAM13A as a gene linked to chronic obstructive pulmonary disease. Several single-nucleotide polymorphisms—notably, rs7671167, rs2869967, rs2869966, and rs17014601—are associated with chronic obstructive pulmonary disease susceptibility and spirometric indices. This study aimed to investigate the association between FAM13A single-nucleotide polymorphisms and spirometric indices in chronic obstructive pulmonary disease and non-chronic obstructive pulmonary disease patients and assess the correlation of these single-nucleotide polymorphisms with pulmonary ventilation function. Methods This study included 160 participants (80 chronic obstructive pulmonary disease patients and 80 controls) who underwent clinical evaluation and spirometry at Can Tho University of Medicine and Pharmacy Hospital from March 2021 to February 2023. Results The mean patient age was 66.3 ± 7.9 years. Significant differences in allele frequencies of the studied single-nucleotide polymorphisms were observed between the two groups. TT genotypes at rs7671167 and rs17014601 and CT genotypes at rs7671167, rs2869967, and rs2869966 were associated with significant differences in forced vital capacity, forced expiratory volume in 1 second, and Tiffeneau index. Conclusion The CT genotype at rs7671167, rs2869967, and rs2869966 is significantly associated with altered spirometric parameters, suggesting a role in chronic obstructive pulmonary disease–related lung function impairment.

Source: Journal of International Medical Research

DOI: 10.1177/03000605251372069