Analysis of association of certain gene polymorphism CD14, TNF-α, TLR2, CSF1R and TRPM8 with chronic generalized periodintitis

Abstract

For understanding many aspects of the pathogenesis of chronic periodontitis it is very important to carry out studies in the pre-clinical stage of this disease. Currently, making diagnosis of chronic generalized periodontitis, first of all we pay attention on the degree of bone resorption and the depth of the periodontal pockets, but less attention we pay to the assessment of genetic risk factors of this disease, although the polymorphism of genes which regulates the inflammatory response are playing an important role in the pathogenesis of generalized periodontitis, causing the appearance of clinically detectable symptoms. Destructive changes in periodontium which are defined clinically are already a consequence of a disease, but the primary diagnosis should be based on the study of the polymorphisms of genes which are responsible for recognition of the pathogen and implementing its action in the early stages of inflammation, resulting in the character of the defensive reactions and susceptibility to periodontitis. In this article we attempt to identify the markers which have a genetic predisposition to periodontitis. As candidate genes we selected genes which are involved in non-specific immune response when there is an invasion in the organism by pathogens: CD14, TNF-α, TLR2 and CSF1R [1, 9]. Genes are expressed by the monocyte / macrophage cells. Product of CD14 gene promotes recognition by Toll-receptors on the cell surfaces [3]. It was shown that the mutant allele of this gene increases the expression and thereby increases the immune response. TLR2 gene encodes a polypeptide which is a Toll-receptor, with a wide spectrum of action and reacting on a varied bacterial flora [5, 6]. TNF-α gene expresses a cytokine with pleiotropic effects, which plays a key role in the pathogenesis of many infectious and inflammatory diseases [10, 11]. CSF1R gene encodes a cell surface receptor which is participating in a cell proliferation, differentiation, survival of the cells of monocyte / macrophage series and involved in nonspecific immunity, in addition, the receptor plays an important role in bone formation [4]. A number of studies are establishing the association of gene polymorphism with some multifactorial diseases [7, 8].