ABSTRACT
The aim of this cross-sectional observational study is to determine the contribution of polymorphisms of energy metabolism genes into metabolic disorders in Russian and Buryat adolescents with overweight and obesity. The study included 354 Russian and Buryat adolescents aged 13-18 years. Body mass index and serum levels of glucose, insulin, and leptin were measured and insulin resistance index HOMA-IR was calculated. Molecular genetic analysis for the presence of 9 loci of energy metabolism genes LEP, LEPR, POMC, FTO, and MC4R were analyzed. It was found that the risk of metabolic disorders is associated with the presence of polymorphic loci of leptin receptor gene LEPR and melanocortin receptor gene MC4R (LEPR rs1137100+LEPR rs1137101 and LEPR rs1137100+MC4R rs17782313) in Russian adolescents with overweight and obesity and polymorphisms of the gene FTO (FTO rs9939609+rs8050136) associated with fat mass and obesity in Buryat adolescents.
Subject(s)
Alpha-Ketoglutarate-Dependent Dioxygenase FTO , Metabolic Diseases , Adolescent , Alpha-Ketoglutarate-Dependent Dioxygenase FTO/genetics , Body Mass Index , Cross-Sectional Studies , Energy Metabolism/genetics , Genetic Predisposition to Disease/genetics , Genotype , Humans , Metabolic Diseases/genetics , Overweight/genetics , Polymorphism, Single Nucleotide/genetics , Receptor, Melanocortin, Type 4/genetics , Receptors, Leptin/geneticsABSTRACT
Polycystic ovary syndrome (PCOS) is the most common cause of female endocrine infertility. Insulin resistanÑе is supposed to be one of the essential factors of this disease pathways. At the same time, the mechanisms of PCOS development in insulin-resistant patients have not been completely established. Leptin and Peroxisome Proliferator-Activated Receptor γ(PPARγ) are involved in carbohydrate metabolism and reproduction function regulation. It indicates that leptin and PPARγ possibly play a role in the pathways of PCOS. This article is a review of publications on this issue. The purpose of this review was to systematize the available information on the molecular mechanisms that determine the role of leptin and PPARγ in the development of PCOS. The literature search was carried out from 04/05/2020 to 05/17/2020 using the scientific literature databases: NCBI PubMed (foreign sources) and Cyberleninka (domestic sources). We analyzed publications for the period 1990-2020.The review presents the current understanding of the possible role of leptin and PPARγ in the regulation of endocrine, immune systems, and reproductive function, as well as in the development of PCOS. Currently, no studies cover the mechanisms of interaction between leptin and PPARγ in the pathways of this syndrome. The available studies indicating the individual contribution and association of leptin and PPARγ with PCOS are conflicting and have many limitations. Therefore, more studies of direct and indirect interaction of leptin and PPARγ, as well as their role in PCOS pathways, are needed.
Subject(s)
Infertility, Female , Insulin Resistance , Polycystic Ovary Syndrome , Female , Humans , Leptin , PPAR gamma/geneticsABSTRACT
AIM: To identify the association between Ile105Val, Ala114Val polymorphisms of gene GSTP1 (glutathione transferase pi1) and infertility in Russian men. MATERIALS AND METHODS: A total of 160 infertile Russian men of reproductive age (mean age 30.2+/-3.6 years) were included in study group, while in control group there were 104 age-matched healthy fertile Russian male (mean age 31.3+/-5.4 years). Molecular and genetic studies of Ile105Val, Ala114Val polymorphisms of gene GSTP1 were performed using real-time polymerase chain reaction. Genomic DNA was extracted from the peripheral blood. RESULTS: A frequency of genotypes (p=0.024; df=2; p=0.024) and alleles (z=2,778; p=0,005) of Ile105Val locus was significantly different in the study and control group. In the study group, there was an increase in the frequency of the Ile/Ile genotype by 13% (=3.995; df=1; p=0.046) and a decrease in the frequency of the Val/Val genotype by 6% (=4.887; df=1; p=0.027). A rate of genotype Ile/Ile in infertile men with was 1.7 time higher than in control group (odds ratio (OR):1.73; 95% confidence interval (Cl): 1.04-2.87; p<0.05). There was not significant difference in frequency of genotypes and alleles of Ala114Val polymorphism of gene GSTP1 between the study and control groups. CONCLUSIONS: The male infertility in Russia is associated with Ile105Val polymorphism and not associated with Ala114Val polymorphism of gene GSTP1. In infertile men wild-type genotype and major allele Ile105Val polymorphism of gene GSTP1 were significant more frequent compared to control group. A rate of genotype Ile/Ile in men with infertility was 1.7 time higher.
