TỶ LỆ BIẾN THẾ ĐA HÌNH ĐƠN NUCLEOTIDE RS1800629 TRÊN VÙNG KHỞI ĐỘNG GEN TNF- TRONG CÁC PHÂN NHÓM ĐỢT CẤP BỆNH PHỔI TẮC NGHẼN MẠN TÍNH THEO CHỈ SỐ NLR TẠI BỆNH VIỆN NGUYỄN TRI PHƯƠNG

Abstract

Background: Chronic obstructive pulmonary disease (COPD) is a leading global cause of mortality, particularly in low- and middle-income countries like Vietnam. Chronic inflammation is pivotal in its pathogenesis, with tumor necrosis factor-alpha (TNF-α) driving alveolar destruction and amplifying inflammation. The single nucleotide polymorphism rs1800629 (TNF-α -308G/A) is associated with increased TNF-α expression and elevated COPD risk in Asian populations. The neutrophil-to-lymphocyte ratio (NLR) is a promising inflammatory biomarker for stratifying acute exacerbation of COPD (AECOPD) patients by inflammatory endotypes. Objective:  To preliminarily evaluate the association between the rs1800629 polymorphism in patients with acute exacerbation of chronic obstructive pulmonary disease at Nguyen Tri Phuong Hospital and NLR-based subgroups. Materials and Methods: A cross-sectional study was conducted on 120 AECOPD patients diagnosed per GOLD 2024 criteria at Nguyen Tri Phuong Hospital from September 2024 to June 2025. Patients were classified into Neutrophilic (NLR ≥ 3.6) and Non-Neutrophilic (NLR < 3.6) groups based on complete blood count data. Genomic DNA was extracted from peripheral blood, and rs1800629 was genotyped using PCR-RFLP. Allele and genotype frequencies, along with associations with NLR subgroups, were analyzed using STATA 14.2, with p < 0.05 considered statistically significant. Results: Among 120 patients, 72.5% were Neutrophilic (mean NLR 14.02 ± 11.94), and 27.5% were Non-Neutrophilic (mean NLR 2.07 ± 0.74). The rs1800629 allele A frequency was 10% overall, with 9.20% in the Neutrophilic group and 12.12% in the Non-Neutrophilic group. Genotype distribution conformed to Hardy-Weinberg equilibrium (p > 0.05). No significant association was found between rs1800629 and NLR subgroups (p > 0.05), though a trend of OR > 1 in the overdominant model suggests allele A may be associated with milder inflammatory endotypes. Conclusion: The frequency of the rs1800629 allele A is comparable to Asian populations, with a higher trend in the Non-Neutrophilic group, suggesting a potential role in distinct inflammatory endotypes.