Paget's disease of bone is not associated with common polymorphisms in interleukin-6, interleukin-8 and tumor necrosis factor alpha genes

Abstract

[Background]: Cytokines, specially interleukin (IL)-6, play an important role in the differentiation and activation of osteoclasts and might be involved in osteoblast stimulation in Paget’s disease of bone (PDB). [Objectives]: The aim of this study was to investigate the association of polymorphisms in IL-6, IL-8 and tumor necrosis factors-alpha (TNFA) genes among Spanish patients with PDB. [Methods]: We studied four single nucleotide polymorphisms (−174 G > C IL-6, −251 T > A IL-8, −238 G > A TNFA and −308 G > A TNFA) in 172 PDB patients and 150 healthy controls. Distribution of alleles and pro-inflammatory genotypes were studied for association with the presence of the disease and with clinical and laboratory data, as well as the response to bisphosphonate treatment in PDB patients. [Results]: We found no statistically significant association between genotype and allele distribution of any of the cytokines polymorphism studied and PDB. No association between the clinical and therapeutic characteristics of PDB and the investigated polymorphism were found. [Conclusions]: This study does not support the hypothesis that the analyzed IL6, IL8 and TNFA polymorphism are associated with PDB.