Association of CD40 -1C/T polymorphism in the 5'-untranslated region and chronic obstructive pulmonary disease

Abstract

Background: Chronic inflammation of the airways and lung parenchyma plays a major role in the pathogenesis of chronic obstructive pulmonary disease (COPD). It is influenced by both environmental and genetic factors. CD40 signaling has been linked to pathogenic processes of chronic inflammatory diseases. After interaction with its ligand CD154 (CD40L), CD40 induces a broad variety of chronic inflammatory responses, inducing the release of inflammatory mediators. We investigated whether a CD40 gene (-1C/T) single nucleotide polymorphism (SNP) is associated with COPD in a Chinese population.

Methods: We analyzed -1C/T SNP of the CD40 gene in 234 patients with COPD, and also in 312 controls using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing methods.

Results: The frequency of CT and CT+CC of CD40 gene was significantly different from TT in the COPD group compared with the control group (for CT: OR=1.777, 95% CI: 1.117-2.826, p=0.015; for CT+CC: OR=1.614, 95% CI: 1.032-2.526, p=0.035). However, neither the allele frequency of CD40 nor the smoking and clinical stages in CD40 -1C/T genotypes frequency had significant differences between the COPD patients and control.

Conclusion: These findings suggest that the CD40 -1C/T polymorphism may contribute to the susceptibility to COPD in a Chinese population.