Olga Yu Bushueva

Kursk State Medical University · Biology, Medical Genetics and Ecology Department

Our review seeks to elucidate the current state-of-the-art in studies of 70-kilodalton-weighed heat shock proteins (Hsp70) in neurodegenerative diseases (NDs). The family has already been shown to play a crucial role in pathological aggregation for a wide spectrum of brain pathologies. However, a slender boundary between a big body of fundamental d...

Uterine fibroids (UF) are common benign tumors in women. The course of UF is associated with troubling symptoms and the development of infertility and pregnancy pathology. Surgical treatment even implies hysterectomy, while pharmacological interventions are modestly effective. Classically, hypoxic metabolism is considered a hallmark of malignant tu...

The aim of this pilot study was to investigate whether single nucleotide polymorphisms (SNP) in the gene encoding the catalytic subunit of glutamate cysteine ligase (GCLC) are associated with the risk and clinical features of psoriasis. A total of 944 unrelated individuals, including 474 patients with a diagnosis of psoriasis and 470 healthy contro...

HSPA8 is involved in many stroke-associated cellular processes, playing a pivotal role in the protein quality control system. Here we report the results of the pilot study aimed at determining whether HSPA8 SNPs are linked to the risk of ischemic stroke (IS). DNA samples from 2139 Russians (888 IS patients and 1251 healthy controls) were genotyped...

The SERBP1 gene is a well-known regulator of SERPINE1 mRNA stability and progesterone signaling. However, the chaperone-like properties of SERBP1 have recently been discovered. The present pilot study investigated whether SERBP1 SNPs are associated with the risk and clinical manifestations of ischemic stroke (IS). DNA samples from 2060 unrelated Ru...

The aim of this pilot study was to investigate whether single nucleotide polymorphisms (SNP) in the gene encoding the catalytic subunit of glutamate cysteine ligase (GCLC) are associated with the risk and clinical features of psoriasis. A total of 944 unrelated individuals, including 474 patients with a diagnosis of psoriasis and 470 healthy contro...

Background: Ischemic stroke (IS) is one of the most serious cardiovascular events associated with high risk of death or disability. The growing body of evidence highlights molecular chaperones as especially important players in the pathogenesis of the disease. Since six small proteins called "Hero" have been recently identified as a novel class of...

Background: Ischemic stroke (IS) is the leading cause of death and disability worldwide. Chaperone proteins protect brain cells from the ischemic damage by restoring the structures of damaged proteins. Chaperone C9orf16 (also known as BBLN) belongs to the class of heat-resistant obscure (HERO) proteins, characterized by the ability to stabilize var...

Background Glutathione is a tripeptide detoxifying a variety of exogenous and endogenous free radicals and carcinogens, and a deficiency of glutathione is associated with an increased host susceptibility to oxidative stress, a pathological condition implicated in the development and progression of cancer. The catalytic subunit of glutamate-cysteine...

The purpose of this pilot study was to explore whether polymorphisms in genes encoding the catalytic (GCLC) and modifier (GCLM) subunits of glutamate-cysteine ligase, a rate-limiting enzyme in glutathione synthesis, play a role in the development of ischemic stroke (IS) and the extent of brain damage. A total of 1288 unrelated Russians, including 6...

The study was designed to evaluate putative mechanisms by which lipid-associated loci identified by genome-wide association studies (GWAS) are involved in the molecular pathogenesis of coronary artery disease (CAD) using a comprehensive statistical and bioinformatics analysis. A total of 1700 unrelated individuals of Slavic origin from the Central...

Background. Glutathione is a tripeptide detoxifying a variety of exogenous and endogenous free radicals and carcinogens, and a deficiency of glutathione is associated with an increased host susceptibility to oxidative stress, a pathological condition implicated in the development and progression of cancer. Catalytic subunit of glutamate-cysteine li...

Dysregulation of the oxidant-antioxidant system contributes to the pathogenesis of cerebral stroke (CS). Epigenetic changes of redox homeostasis genes, such as glutamate-cysteine ligase (GCLM), glutathione-S-transferase-P1 (GSTP1), thioredoxin reductase 1 (TXNRD1), and myeloperoxidase (MPO), may be biomarkers of CS. In this study, we assessed the a...

Background: Arterial hypertension (AH) is the most common disease of the cardiovascular system. Intracellular chemical and oxidative stress, which can be associated both with direct exposure to toxic xenobiotics and with their excessive activation during biotransformation, may lead to endothelial dysfunction and increased risk of AH development. Th...

Aim To study association of single-nucleotide polymorphisms rs1049255 CYBA and rs2333227 MPO with development of ischemic heart disease (IHD) in Russian residents of Central Russia. Material and methods The study material was DNA samples from 436 patients with IHD (265 men, 171 women; mean age, 61 years) and 370 sex- and age-matched arbitrarily hea...

Preeclampsia is a severe disease of late pregnancy. Etiological factors and a pathogenetic pattern of events still require significant clarification, but it is now recognized that a large role is played by placentation disorders and emerging endothelial dysfunction. The administration of short-chain peptides mimicking the spatial structure of the B...

Oxidative stress is an important component of the pathogenesis of type 2 diabetes mellitus (T2D). Glutathione peroxidase 2 is one of the antioxidant defense enzymes which uses glutathione as a co-substrate to reduce hydrogen peroxide and has the highest expression in the pancreas, an organ that is directly related to the development of diabetes. Ho...

Aim. To analyze the associations of apolipoprotein E (APOE) gene polymorphisms (rs7412 and rs4420638) with the risk of coronary artery disease (CAD) and the effectiveness of lipid-lowering therapy with rosuvastatin.Material and methods. The study involved the analysis of deoxyribonucleic acid samples and phenotypic data of 1700 unrelated individual...

The present study investigated a joint contribution of matrix metalloproteinases (MMPs) genes to ischemic stroke (IS) development and analyzed interactions between MMP genes and genome‐wide associated loci for IS. A total of 1288 unrelated Russians (600 IS patients and 688 healthy individuals) from Central Russia were recruited for the study. Genot...

The hypoxia-inducible factor (HIF) system plays a dominant role in the regulation of oxygen balance. There are three forms of HIF protein, whose function is being actively studied by the medical and biological environment. HIF-1 consists of α- and β-subunits. The α-subunit is destroyed under normoxia by oxygen-dependent enzymes such as prolyl hydro...

Chronic rhinosinusitis (CRS) is a syndrome associated with persistent inflammation of the mucous membranes of the nose and paranasal sinuses. There are two forms of CRS: chronic rhinosinusitis with nasal polyposis (CRSwNP) and chronic rhinosinusitis without nasal polyposis (NP) (CRSsNP). Available data indicate that innate immunity, adaptive immuni...

Purpose. Studying of interrelation of the polymorphisms +936C>T, -460C>T, 534C>T и -2578C>A VEGFA gene with risk of development of the obliterating atherosclerosis of the lower extremities arteries in population of the russian residents of the Central Russia. Material and methods. The research was performed on selection of the unrelated individuals...

Дисбаланс в функционировании про- и антиоксидантной систем играет ключевую роль в патогенезе сахарного диабета 2-го типа (СД2) и отражается в характере манифестации заболевания, спектре и скорости прогрессирования развивающихся на его фоне осложнений, эффективности лечения. Цель исследования – изучить антиоксидантный статус больных СД2, а именно, с...

Aim: To examine the association of genetic polymorphisms (-308)G/A TNFα, (+250)A/G Ltα, (+36)A/G TNFR1, (+1663)A/G TNFR2 with the development of primary open angle glaucoma (POAG) among people in Central Russia. Methods: The study sample included 443 individuals, of which 252 patients with POAG and 191 individuals in the control group. Genotypin...

Epoxyeicosatrienoic acids (EETs) are important vasoactive products of arachidonic acid metabolism with a wide range of biological actions in the cardiovascular system. The present study investigated whether single nucleotide polymorphisms (SNP) of genes coding cytochrome P450 2C subfamily, enzymes involved in biosynthesis of EETs, are associated wi...

Aim: The aim of this study was to examine the role of hereditary thrombophilia in the development of fetal growth retardation (FGR) in the population of Central Russia. Methods: The case-control study sample included 497 women in the third trimester of pregnancy recruited during 2009-2013. The participants were enrolled into two groups: patients...

Numerous studies demonstrated an importance of cytochrome P-450 epoxygenase pathway of arachidonic acids metabolism for the pathogenesis of essential hypertension (EH). The present study was designed to investigate whether common single-nucleotide polymorphisms (SNP) of CYP2C gene subfamily such as CYP2C8 (rs7909236 and rs1934953), CYP2C9 (rs933224...

Genetic factors play an important role in the development of obliterative atherosclerosis of arteries in the lower extremities. There are numerous data in the literature on polymorphic variants of the TGFB1 gene associated with the risk of development of cardiovascular diseases, but some of them are contradictory. The present study aimed at elucida...

Aim: to reveal the role of genetic polymorphisms of growth factors in predisposition to developing POAG that is refractory to local hypotensive therapy. Material and methods: The object of the study were 162 patients with stage II-III POAG, in whom local hypotensive therapy was inefficient, 90 patients with stage II-III POAG well controlled on l...

Objective: The present study was designed to investigate whether genetic polymorphisms of the aryl hydrocarbon receptor (AHR) signaling pathway are involved in the molecular basis of essential hypertension (EH). Methods: A total of 2160 unrelated Russian individuals comprising 1341 EH patients and 819 healthy controls were recruited into the stu...

Objectives: The present study was designed to investigate whether the susceptibility to acute pancreatitis (AP) attributable to polymorphism rs10273639 at the PRSS1-PRSS2 locus is dependent on alcohol consumption and cigarette smoking. Methods: A total of 603 unrelated Russian individuals including 304 patients with physician-diagnosed AP and 29...

Objective: The purpose of our pilot study was to investigate associations between polymorphisms of the CYP2C8 gene with susceptibility to essential hypertension (EH) in Russian population. Design and method: A genetic association study of common polymorphisms of the CYP2C8 gene with essential hypertension in Russian population. A total of 1 459 unr...

Objective: The present study was designed to examine a relationship between common polymorphism C3435T of the ABCB1 gene and risk of essential hypertension (EH) and to test the hypothesis whether associations of the ABCB1 genotypes with disease risk is modified by smoking status. Design and method: A genetic association study of polymorphism C3435T...

Objective: The purpose of this study was to investigate whether polymorphisms in genes involving aryl hydrocarbon receptor (AHR) signaling pathway are associated with the risk of essential hypertension (EH). Design and method: A genetic association study of the AHR signaling pathway gene polymorphisms with essential hypertension in Russian populat...

Aim: To investigate whether the functionally relevant -844G>A promotor polymorphism in the catalase (CAT) gene is associated with the development of essential hypertension (EH). Subjects and methods: The investigation enrolled 2,339 unrelated ethnic Russian people, including 1,269 EH patients and 770 apparently healthy individuals. Genotyping of...

We studied the relationship between lipoprotein lipase (LPL) gene HindIII polymorphism and the development of acute pancreatitis in the Russian population. Whole blood samples were collected from 145 patients with acute non-biliary pancreatitis and 191 healthy individuals. Genotyping of LPL gene HindIII (rs320) polymorphism was performed by PCR wit...

Article concerns data of the comparative analysis of polymorphic options of genes at patients with genital endometriosis and women in control group. There were determined CT genotype of rs4374421 LHCGR locus (OR=0.76) is protective factor of genital endometriosis, and genetic markers TT rs7753051 IGF2R and AA rs6589964 BSX (OR=1.32 and OR=1.38, res...

Specific gene polymorphisms are known to be associated with a different arterial physiology in the younger generation. The present study found that young Russians with the matrix metalloproteinase 3 6A/6A and γ-glutamyltransferase 1AA genotypes have lower levels of the cardio-ankle vascular index - a recent measure of arterial stiffness. This obser...

Objective. To study the characteristics of neuropsychological status on the basis of functional asymmetry in patients who have suffered ischemic stroke (IS). Materials and methods. A total of 92 patients with IS of different pathogenetic subtypes (atherothrombotic, cardioembolic, lacunar) were studied. Results. We report here the fi rst description...

Aim: To investigate the association between LPL HindIII (rs320) and CETP Taq1b (rs708272) polymorphisms with the risk of atherothrombotic stroke (ATS) in the population of Central Russia. Material and methods: A total of 832 DNA samples obtained from 417 patients with ATS and from 415 healthy individuals of the corresponding gender and age were...

Taking into account the genetic heterogeneity of hyperlipidemias, polymorphic genes involved in the regulation of lipid metabolism may explain differences in the efficacy of hypolipidemic therapy. In the present prospective and randomized study, we have investigated the efficacy of rosuvastatin (10 mg/day) in the therapy of atherogenic hyperlipidem...

The article highlights the bioinformatics analysis data of five polymorphous loci among 947 patients with uterine hyperplasia and 988 women from the control group. It was found that the increased risk of uterine hyperplasia in women of Russia Central region is connected with the combination of alleles C rs12444979 with G rs2241423 (OR = 1.57), and...

The article presents the results of the comparative analysis of frequencies of polymorphic variants of 5 genes among patients with uterine fibroid and control groups. It was found that among women in the Central region of Russia protective factor in the formation of uterine fibroids is a molecular-genetic marker of TS rs7753051 (OR=0.81).

We studied the relationship between the risk of chronic heart disease and FMO3 gene polymorphism E158K analyzed by PCR and restriction fragment length polymorphism (RFLP) analysis. The homozygous 158KK genotype of FMO3 gene is associated with high risk of chronic heart disease in women, but not in men. FMO3 gene polymorphism E158K is a significant...

OBJECTIVE: The study was designed to assess the effects of polymorphisms in genes associated with essential hypertension on the variation of erythrocyte membrane proteins (EMPs) in hypertensive patients. METHODS: Major EMPs content was analyzed in blood from 1162 unrelated Russians (235 hypertensive patients, 176 healthy controls, and 751 random in...

Objective. Reactive oxygen species an important role in the pathogenesis of cerebrovascular disorders. NAD(P)H oxidases are one of the main sources of superoxide anions in cerebral arteries. NAD(P)H oxidase represents molecular complex and its p22phox subunit is coded by the CYBA gene located in the long arm of chromosome 16. We studied the associa...

The purpose of this study was to investigate whether a common polymorphism -463G>A (rs2333227) in the promoter of myeloperoxidase (MPO) gene, an oxidant enzyme producing hypohalogenic radicals, is associated with the risk of essential hypertension (EH) in Russian population. A total of 2,044 unrelated subjects including 1,256 EH patients and 788 no...

The cardio-ankle vascular index is a measure of arterial stiffness, whereas oxidative stress underlies arterial pathology. This study aimed to investigate the association between the cardio-ankle vascular index and antioxidant-related gene polymorphisms in young Russians. A total of 89 patients (mean age, 21.6 years) were examined by the cardio-ank...

Genetic factors can account for the differences in the frequency of stroke between men and women. Despite the scarcity of special clinico-genetic studies of stroke frequency in the two genders, analysis of association between DNA polymorphism and risk of stroke may reveal the influence of genetic factors on the sex-related predisposition to cerebro...

Objective: Gene encoding aldosterone synthase gene (CYP11B2), has been suggested to contribute to stroke. The present study was designed to investigate whether common functional polymorphism −344C>T (rs179998) of the CYP11B2 gene is associated with ischemic stroke (IS) and intracerebral hemorrhage (ICH) in a Russian population. Methods: A total 936...

Enhanced thrombogenesis in patients with diabetes mellitus (D) is related to genetically determined disorders of the blood coagulation system analogous to those associated with hereditary thrombophilia. The aim of this work was to elucidate the relationship between the functionally significant methylenetetrahydroxyfolatereductase (MTHFR) C677T (rs1...

Aim: To study the association of M235T (rs699) and T174M (rs4762) polymorphisms of the angiotensinogen (AGT) gene with the risk of cerebral stroke (CS) in the Russians of the Central Chernozem Region. Materials and methods: A total of 638 DNA samples obtained from 353 patients with CS and 285 sex- and age-matched healthy individuals were examine...

Aim: A noninvasive approach to assess atherosclerosis in young people is of great concern. The cardio-ankle vascular index (CAVI) and ankle-brachial index (ABI) reflect the arterial conditions, although the CAVI has not fully been studied in Russian populations. This study aimed to determine the CAVI and ABI in young Russians, to compare these fin...

Gene encoding flavin-containing monooxygenase 3 (FMO3), a microsomal antioxidant defense enzyme, has been suggested to contribute to essential hypertension (EH). The present study was designed to investigate whether common functional polymorphism E158K (rs2266782) of the FMO3 gene is associated with EH susceptibility in a Russian population. A tota...

Introduction. The renin-angiotensin system is a major regulator of blood pressure. The angiotensin II type 1 receptor (AGTR1) plays a key role in blood pressure control, and is implicated in the pathogenesis of cerebrovascular disease. Polymorphisms within the AGTR1 gene have been found to be associated with the risk cerebral stroke (CS) in some po...

Objective. To study neuropsychological status based on functional asymmetry of patients after ischemic stroke (II). Material and methods. We examined 92 patients after II of different pathogenetic types (atherothrombotic, cardioembolic, lacunar). Results. The first-ever description of patient's neuropsychological status of II patients based on the...

The aim of this study was to investigate the relationship between the polymorphism -308G>A of tumor necrosis factor (TNF) gene and the risk and severity of acute pancreatitis (AP) in unrelated Russians from Kursk region. DNA samples were obtained from 190 AP patients and 217 healthy controls for genotyping the polymorphism through a TaqMan allelic...

Oxidative stress resulting from an increased amount of reactive oxygen species and an imbalance between oxidants and antioxidants has been implicated in pathogenesis of cerebral stroke. The purpose of this study was to investigate the relationship between common polymorphisms of glutathione S-transferase M1, T1, and P1 genes and risk of stroke in h...

Experimental and clinical studies suggest that oxidative stress is an important pathogenetic mechanism of both essential hypertension (EH) and cerebral stroke (CS). In this paper, we investigated, for the first time, the relationship between polymorphisms of two genes for antioxidant defense enzymes such as catalase (CAT) and flavin-containing mono...

In the present study we have investigated the association of three single nucleotide polymorphisms in glutathione peroxidase (GPx) genes GPX1 rs1050450 (P198L), GPX3 rs2070593 (G930A) and GPX4 rs713041 (T718C) with the risk of cerebral stroke (CS) in patients with essential hypertension (EH). A total of 667 unrelated EH patients of Russian origin,...

The relationship of polymorphisms Pro187Ser and Arg139Trp of the NQO1 gene with the risk of bronchial asthma (BA) has been studied for the first time in Russian population. DNA samples from 215 asthmatics and 214 healthy unrelated controls were genotyped through PCR and restriction fragment length polymorphism techniques. Association of genotype 1...