Association of tumor necrosis factor alpha gene promoter polymorphism withthe presence of chronic obstructive pulmonary disease

Tumor necrosis factor alpha (TNF-alpha), a potent proinflammatory cytokine, may be involved in the development of chronic obstructive pulmonary diseas e (COPD). The production of TNF-alpha is elevated in the airways of these p atients. A polymorphism at position - 308 of the TNF-alpha gene promoter (T NF-alpha -308*1/2) is known to be associated with alteration of TNF-alpha s ecretion in vitro. In this study we examined the differences in TNF-alpha - 308*1/2 allele frequency to investigate the association of this polymorphis m with the presence of smoking-related COPD. TNF-alpha -308*1/2 allele freq uency in 106 patients (73 men and 33 women) was compared with 110 asymptoma tic smoker/ex-smoker control subjects matched for sex and age and populatio n control subjects consisting of 129 brood donors. Genotype was analyzed by the polymerase chain reaction-restriction fragment length polymorphism tec hnique on genomic DNA isolated from peripheral blood lymphocytes. TNF-alpha -308*1/2 allele frequencies were significantly different among the groups: 0.835/0.165 in patients with COPD, 0.918/0.082 in smoker/ex-smoker control subjects, and 0.922/0.078 in population control subjects. These results in dicate that TNF-alpha -308*1/2 alleles are significantly associated with th e presence of smoking-related COPD.