TNF-alpha +489G/A polymorphism and COPD

The pro-inflammatory cytokine tumor necrosis factor (TNF)-alpha plays an important role in inflammatory processes. The gene coding for this cytokine is located on chromosome 6 in the class III region of the major histocompatibility complex. Several biallelic polymorphisms of this gene are known. Some of them have been reported to be associated with chronic inflammatory diseases. Chronic obstructive pulmonary disease (COPD) is characterised by enhanced level of TNF-alpha in sputum and in circulation indicating that this cytokine is involved in both the local and systematic inflammation present in COPD. Analysis of possible TNF-alpha gene polymorphisms in COPD could be related to a higher susceptibility to develop this disabling pathological condition. We analysed TNF-alpha gene polymorphism at position +489G/A located in the first intron of the gene which has been reported to be associated with COPD in Dutch population. Polymorphism at position +489G/A of TNF-alpha gene was examined in 31 COPD patients and in 51 healthy volunteers by PCR-RFLP procedure. We found following genotype frequencies in the group of COPD patients: AG 0.39, GG 0.61, and AA 0.00 ; and in the control group: AG 0.53, GG 0.45, and AA 0.02. There were no differences on the allele and genotype frequency between the two groups (P=0, 299). We could not find a significant link between the +489G/A polymorphism of TNF-alpha gene and COPD in Croatian population.