BƯỚC ĐẦU KHẢO SÁT MỐI LIÊN QUAN CỦA BIẾN THỂ ĐA HÌNH ĐƠN NUCLEOTIDE RS1800629 TRÊN VÙNG KHỞI ĐỘNG CỦA GEN TNF - ALPHA VỚI BỆNH PHỔI TẮC NGHẼN MẠN TÍNH

Abstract

Introduction: Chronic obstructive pulmonary disease (COPD) is a complex multifactorial disease with a significant genetic contribution. The single nucleotide polymorphism (SNP) rs1800629 has been identified as a potential risk factor for COPD. The prevalence of this SNP and its association with COPD have not been investigated in the Vietnamese population. Objectives: To determine the prevalence of the SNP rs1800629 in the promoter region of the TNF-alpha gene in COPD patients and to investigate the association between this SNP and COPD in patients with chronic obstructive pulmonary disease compared to the general population. Subjects and Methods: A cross-sectional study with a control group was conducted to assess anthropometric characteristics, clinical data, and genotype of the SNP rs1800629 in 90 COPD patients and 90 controls. The SNP was genotyped using PCR-RFLP. Anthropometric data, medical history, and clinical data were obtained from medical records and at the time of sample collection. ResultsIn the COPD group (n=90), the median age was 67 years, and females accounted for 7.78%. The allele frequencies were 0.08% for allele A and 92.22% for allele G. The genotype frequencies were 1.11% for AA, 13.33% for AG, and 85.56% for GG. In the control group (n=90), females accounted for 7.78%, and the median age was 35 years. The allele frequencies were 0.07% for allele A and 93.33% for allele G. The genotype frequencies were 1.11% for AA, 11.11% for AG, and 87.78% for GG. Carriers of the AG genotype had a 23% increased risk of COPD compared to carriers of the GG genotype, and carriers of the A allele had an 18% increased risk of COPD compared to non-carriers. However, these results were not statistically significant. Conclusion: The genotype frequencies of the SNP rs1800629 were determined in COPD patients treated at Nguyen Tri Phuong Hospital. An initial association between rs1800629 and COPD was described. Further studies with larger sample sizes are needed to confirm a statistically significant association between rs1800629 and COPD.