The role of LEPR, PPARG and PPARGC1A genes polymorphisms in the development of metabolic disorders in patients with vibration diseases

Introduction. Patients with vibration disease (VD) often have obesity and metabolic syndrome (MS), which increase the risk of developing type 2 diabetes, hypertension, and other conditions predisposing to a decrease in the quality and longevity of life. Genetic predisposition, overnutrition, environmental factors, including industrial ones, and others are factors influencing the formation of MS.  The aim of the study is to identify associations between polymorphisms of the LEPR, PPARG and PPARGC1A genes, metabolic syndrome and obesity in VD patients caused by exposure to local vibration and the combined effects of local and general vibration.  Material and methods. We examined 248 VD male patients exposed to local vibration and the combined impact of the local and general vibration. We have identified a subgroup of MS and obesity cases. The distribution of genotypes of the LEPR, PPARG and PPARGC1A genes in groups was studied.  Results. In the group of VD and MS patients exposed to the combined effect of local and general vibration, the Gln/Gln genotype of the Arg223Gln polymorphic locus of the LEPR gene was less common, and the Arg / Gln genotype in MS cases was detected more often than in patients without it. Among patients with VD caused by exposure to local vibration with a waist circumference of more than 102 cm, the Gly / Ser genotype of the Gly482Ser polymorphism of the PPARGC1A gene was more common than among those with lower values of this indicator.  Conclusion. In patients with VD caused by combined exposure to local and general vibration, the Gln/Gln genotype carrier of the Arg223Gln polymorphism of the LEPR gene may play a protective role in the formation of MS. Among individuals with VD caused by exposure to local vibration, carriers of the heterozygous genotype of the Gly482Ser polymorphism of the PPARGC1A gene may have a predisposition to the development of obesity. The obtained results are preliminary and require further research. Contribution: Masnavieva L.B. — concept and design of the study, collection and processing of material, statistical processing, writing and editing the text; Chistova N.P. — collection and processing of material; Naumova O.V. — collection and processing of material; Kudaeva I.V. — approval of the final version of the article. Conflict of interest. The authors declare no conflict of interest. Acknowledgment. The study had no sponsorship.