SINGLE-NUCLEOTIDE POLYMORPHISMS OF THE ESR1 [RS 2234693], IL-1 [RS1143627], RANKL [RS9594738] AND [RS9594759] GENES AS POSSIBLE RISK MARKERS FOR VARIOUS VARIANTS OF THE COURSE OF PERIODONTAL DISEASE IN PATIENTS BORN MACROSOMIC
Authors: Garmash O.V. 
Published: March 2020

The article is concerned with the research for genetic predictors of periodontal tissue diseases in individuals born to macosomіс.
Purpose of this study is to identify the association between the polymorphic variants of the CYP19A1 [rs2414096, rs936306], ESR1 [rs2234693, rs9340799], IL-1b [rs1143627], IL-6 [rs1800796], IL-10 [rs1800896], RANKL [rs9597575] and VDR [rs 1544410, rs10735810] genes and the formation of periodontal tissue disorders with a predominance of inflammatory (periodontitis) or dystrophic (paradontosis) flow patterns in of Kharkiv and the population of adjacent district who were born by macrosomic delivery.
Object and Methods. The molecular genetic method was used to examine 81 persons of different ages (from 18 to 55 years old) who live in the Kharkiv and adjacent districts (Ukraine). The participants in the study were divided into 3 groups. The pathological changes in periodontal tissues were recorded by the classification of periodontal diseases (M.F. Danylevskyi, 1994).
The macrosomic-at-birth participants who were diagnosed with chronic periodontitis (of the initial, first, or second degree) were assigned to the general group with a predominance of inflammatory processes in periodontal tissues. The macrosomic-at-birth participants who were diagnosed with parodontosis (of the initial, first or second degree), were assigned to the general group with a predominance of dystrophic processes in periodontal tissues. The comparison group consisted of the individuals with a conventionally healthy periodontium.
The DNA was isolated from the buccal epithelium. The genotyping of SNP was carried out by Real-Time PCR.
Conclusions. 1. The risk of dystrophically-inflammatory diseases of periodontal tissues with prevalence of both dystrophic (parodontosis) and inflammatory (periodontitis) flow patterns is associated with variants of the IL-1b gene: [rs1143627] (an over-dominant model of inheritance) in individuals born macrosomic. 2. The protective effect during periodontal tissue diseases with a tendency to inflammatory course was associated with the ESR gene variants [rs 2234693] (recessive model of inheritance) and IL-1b [rs1143627] (dominant and multiplicative model of inheritance). 3. A more pronounced effect of the IL-1b gene variant: [rs1143627] on the development of processes with a tendency to inflammatory course in the periodontal tissues (additive, dominant, over-dominant and multiplicative models of inheritance versus over-dominant model of the tendency to dystrophic flow) was recorded. 4. The risk of developing of pathological processes in periodontal tissues with a tendency to a dystrophic course rather than to an inflammatory course, associated with the RANKL [rs9594738] gene variants (dominant and multiplicative models of inheritance) and RANKL [rs9594759] variant (dominant model of inheritance). 5. Analysis of variants of the ESR1 [rs 2234693], IL-1b [rs1143627] and RANKL [rs9594738], [rs95944738], [rs95944738] gene variants is proposed to be used for DNA diagnostics at the preclinical stage of the disease in order to highlight the risk group for the development of periodontal tissue disorders and increase the effectiveness of personalized preventive measures in individuals born macrosomic.