The Study of the Association in between CHRNA 5 gene polymorphism (rs16969968) and chronic obstructive pulmonary disease

Introduction: Chronic obstructive pulmonary disease (COPD) is a complex, chronic inflammatory disorder of the respiratory system that primarily affects the distal airways and lung parenchyma. Genetic factors are known to contribute to COPD susceptibility. The present study aimed to investigate the association between COPD and the CHRNA5 gene polymorphism rs16969968. Methods: This case–control study included 100 COPD patients and 100 healthy controls. Genotyping of the single nucleotide polymorphism (SNP) rs16969968 in the CHRNA5 gene was performed using polymerase chain reaction (PCR). Statistical analyses were carried out using SPSS version 17. Allele and genotype frequencies were calculated, and associations between CHRNA5 polymorphism and COPD were evaluated using chi-square tests and odds ratio (OR) analysis. Results: The CHRNA5 rs16969968 variant showed no statistically significant association with COPD. The AA genotype was detected in 6% of controls and 15% of COPD patients. The heterozygous AG genotype was present in 39% of controls and 43% of COPD patients, while the homozygous GG genotype was observed in 55% of controls and 42% of COPD patients. The wild-type G allele frequency was 74.5% in controls and 63.5% in COPD patients, whereas the A allele frequency was 25.5% in controls and 36.5% in COPD patients. Statistical analysis revealed no significant difference in allele frequencies between groups (p = 0.157). Genotype distribution showed a borderline trend toward significance (p = 0.055) but did not meet the conventional threshold (p < 0.05). Odds ratio analysis indicated an OR of 1.688 (p = 0.066), suggesting a possible increased risk among carriers of the A allele. Conclusions: The present study found no significant association between the CHRNA5 rs16969968 polymorphism and COPD. However, odds ratio analysis suggested a potential 1.7-fold increased risk of COPD among carriers of the A allele, indicating a possible role of CHRNA5 variants in disease susceptibility. Larger studies with increased statistical power are required to confirm these findings.