The influence of bone metabolism gene polymorphism on the level of encoded proteins in patients with long bone fractures

Introduction. Polymorphism of bone metabolism genes makes an important contribution to the course of reparative processes in fractures and can contribute to the disruption of consolidation. The aim of the study. To identify the level of encoded proteins (OPG, IL6, TGFβ1, EGF) in patients with limb bone fractures depending on the carriage of bone metabolism gene polymorphisms (TNFRSF11B-1181G>C, IL6-174C>G, TGFβ1-25Arg>Pro, EGFR-2073A>T). Materials and methods. The case-control study was performed in 108 patients: Group 1 (n = 64) with uncomplicated course; Group 2 (n = 46) – delayed consolidation. The analyzed groups of patients are comparable in clinical and epidemiological parameters and treatment. The control group was represented by 92 practically healthy individuals of the same sex and age. Two months after the injury, the levels of OPG, IL-6, TGFβ1, EGF were determined by ELISA, and gene polymorphism (TNFRSF11B-1181G>C, IL6174C>G, TGFβ1-25Arg>Pro, EGFR-2073A>T) was determined using standard primer sets “Litech” (Moscow). Statistical processing was performed by the IBM SPSS Statistics Version 25.0 program. Results. The highest level of OPG was recorded in carriers of the CC genotype of the TN-FRSF11BG1181C gene in all studied groups, including the control group. In the group of patients with bone tissue repair disorders, the OPG content increased 1.1-fold relative to carriers of the GC genotype and 1.7-fold compared to carriers of the GG genotype. Analysis of the effects of SNP of the IL6C174G gene, the TGFb1Arg25Pro gene, and the EGFRA2073T gene showed opposite results: carriers of the GG, ProPro, and TT genotypes, respectively, had significantly lower concentrations of encoded proteins (IL-6, TGFb1, and EGF). Conclusion. The content of OPG, IL-6, TGFβ1, EGF decreases in the carriage of the geno-types: -1181G/Gofthe TNFRSF11Bgene,-174G/Gofthe IL6 gene, -25Pro/Pro of the TGFβ1 gene, -2073T/T of the EGFR gene, respectively. The SNPs in question can be used to predict delayed consolidation in patients with limb bone fractures.