Molecular-genetic characteristics of patients with diabetes mellitus. Vestsi Natsyyanal’nai akademii navuk Belarusi

The article discusses the prospects for studying polymorphic variants of peroxisome proliferator-activated receptor genes (PPARs) of three types (PPARα, PPARδ, and PPARγ) in diabetes mellitus (DM), taking into account their key role in the regulation of energy homeostasis, production of pro-inflammatory cytokines, and lipid characteristics and glycemia control. The main emphasis is on the use of screening methods for testing patients for carriage of single nucleotide polymorphisms (SNPs) in order to improve approaches to identifying risk groups for the formation of DM and associated diseases, and subsequent personification of corrective measures. The clinical, laboratory and molecular genetic characteristics of groups of patients with type 1 and 2 diabetes, healthy volunteers are presented. The prevalence of SNPs in the genes of receptors activated by the peroxisome proliferator in patients with DM was studied in comparison with the control group. Among the evaluated SNPs of the rs135551 gene, PPARA showed the clearest association with the presence of DM. Four variants of haplotypes highly associated with DM1 and DM2 were identified. The expediency of further clarification of the clinical and genetic heterogeneity of cases of diabetes within the DM1 and DM2 groups is discussed. The prospects of this direction for the development of preventive technologies in diabetology, long-term epidemiological molecular genetic screenings are assessed.