Proinflammatory cytokine gene polymorphisms and susceptibility to Paget's disease of bone: An association study

► Proinflammatory cytokines may be involved in the pathogenesis of PDB. ► We genotyped PDB patients and controls for polymorphisms in the IL-1α, IL-1β, IL-6, and TNF-α genes. ► No significant difference in the examined polymorphisms was found between cases and controls. ► Patients carrying the IL-6 CC genotype showed increased hearing loss and hyperparathyroidism. ► IL-6 may modulate the clinical features of PDB influencing NF-κB signalling.