Introduction: Chronic obstructive pulmonary disease (COPD) has been associated with enhanced inflammatory response to noxious particles and irritants. Tumor necrosis factor–α (TNF-α) has been observed to be present in elevated levels in COPD patients. Up-regulation of TNF-α production may be a result of mutations in the gene complex coding for its production.

Objective: The main objective of this study is to determine an associated between the COPD and TNF-α gene polymorphism in patients of the University of Santo Tomas Hospital (USTH).

Methods: The occurrence of TNF-α -308G/A gene polymorphism was examined in patients diagnosed with COPD at the USTH. The recruited participants underwent spirometry likewise COPD assessment test scores were determined. Blood samples were collected for genotyping. Recorded data were then statistically analysed.

Results: Forty-nine percent of the total number of participants were diagnosed with COPD (FEV1/FVC < 70) while 51% were part of the control group (FEV1/FVC > 70). Frequencies of the rare allele (A) were found to be higher (0.11) in the control group compared to the patient group (0.04). Participants with smoking history are less likely to develop COPD when carrying the heterozygous genotype G/A (OR 0.10, 95%CI 0.01–0.79, p=0.021). Within the overall participant population, occurrence of the rare allele ‘A’ was higher in the control group (0.12) compared to the patient group (0.7). Heterozygous (G/A) genotype is less likely to have COPD (OR 0.29, 95%CI 0.07-1.21) though disease-SNP polymorphism relationship did not have strong statistical association (p=0.08).

Conclusion: TNF-α -308G/A gene polymorphism is associated with the development and pathogenesis of COPD. Smokers bearing the heterozygous rare G/A allele are less likely to develop the disease as compared to their counterparts bearing the wild type allele. Genotypes containing the rare ‘A’ allele (G/A and A/A) are less likely to develop the COPD.

Keywords: COPD, Tumor Necrosis Factor-α, Genetics, Biomarkers  

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