MOLECULAR GENETIC ASSOCIATION OF SIMULTAN PATHOLOGIES GALLSTONE DISEASE AND METABOLIC SYNDROME
PDF

Keywords

simultan, gallstone disease, metabolic syndrome, polymorphism, gene, allele, genotype, pathogenesis, obesity

Abstract

The prevalence of the disease increases with age and is accompanied by metabolic disorders: GD is detected in persons with diabetes mellitus (DM) 45-50%, overweight - in 40-60%, with high-grade obesity - up to 70% of cases [2]. At the same time, individuals with MS reveal various pathological changes in the gastrointestinal and biliary tract, although the role of gastroenterological diseases in the development of MS has not yet been fully studied [3]. The development of GD and MS remains controversial, despite the well-studied mechanism. These two diseases share several risk factors in common, including age, gender, overweight, and impaired lipid and glucose metabolism. Purpose of the study. Studying the role of rs1042713 and rs1042714 polymorphisms of the ADRB2 gene in the pathogenesis of the nosological combination of simultaneous pathologies gallstone disease and metabolic syndrome. The analysis of associations of polymorphisms rs1042713 and rs1042714 of the ADRB2 gene was carried out using a case-control model. The main group consisted of 118 patients living in the Khorezm region. Among 118 patients, women accounted for 66.1% (78 patients) and 33.9% - men (40 patients) aged 19 to 80 years. All examined patients were divided into 3 subgroups: Subgroup - A 58 patient with GD in combination with obesity, subgroup - B 27 patient with GD with a combination of DM and 33 patient with GD without MS in subgroup B. Genomic DNA preparations were used as a material for the control sample (n = 120), conditionally healthy unrelated donors of Uzbek nationality and had no history of GD and MS. Our results allow us to conclude that the homozygous Glu/Glu genotype plays an important role in the pathogenesis of simultaneous pathologies of gallstone disease and metabolic syndrome. The risk of developing gallstones with MS in the presence of this genotypic variant of the ADRB2 gene can significantly increase by more than 3.5 times. The homozygous Gln/Gln genotype indicates a protective effect in the formation of GD with a combination of MS. The rs 1042713 polymorphism of the ADRB2 gene does not allow the use of this locus as a genetic marker for predicting the risk of MS in patients with GD

PDF