scholarly journals Molecular genetic study of clinical and cognitive features of schizophrenia: No associations with genes SOD2, GSTO1, NQO1

2022 ◽  
Vol 36 (4) ◽  
pp. 99-106
Author(s):  
E. G. Poltavskaya ◽  
O. Yu. Fedorenko ◽  
E. G. Kornetova ◽  
S. A. Ivanova
Keyword(s):  
Antioxidant Enzymes ◽  
Cognitive Abilities ◽  
Molecular Genetic ◽  
Clinical Manifestations ◽  
Russian Population ◽  
Healthy Individuals ◽  
Siberian Region ◽  
Genes Encoding ◽  
Schizophrenic Patients ◽  
Polymorphic Variants

 The main features of schizophrenia are characterized by three domains of symptoms, including positive symptoms, negative symptoms, and cognitive defi cits, the overlap of which forms a polymorphism of clinical manifestations. Previous molecular genetic studies have found signifi cant genetic overlaps between the cognitive abilities and the risk of schizophrenia developing. Recent evidence suggests that oxidative stress may play an important role in the pathophysiology of schizophrenia.Aim. The aim of the study was to investigate the associations of polymorphisms of genes encoding the antioxidant enzymes SOD2, GSTO1, and NQO1 with clinical polymorphism of schizophrenia and the severity of cognitive deficit.Material and Methods. A comprehensive examination of 457 patients with a diagnosis of schizophrenia was carried out. Out of the total group of examined patients, cognitive functions were assessed using the BACS scale in 150 schizophrenic patients. The control group comprised 135 healthy individuals with age and gender corresponding to patient group. Their cognitive function was assessed. Genotyping of SOD2 (rs4880), GSTO1 (rs4925), and NQO1 (rs1800566) was done by realtime PCR.Results. When analyzing the distribution of genotypes and alleles of polymorphic variants of genes encoding the antioxidant enzymes SOD2, GSTO1, and NQO1, no associations between the studied loci and schizophrenia in the Russian population of the Siberian region were revealed. Also, no associations were found with clinical polymorphism of disease (disease course type, leading symptoms (positive or negative), and age of disease onset). The cognitive abilities of schizophrenic patients and healthy individuals were diff erent as expected, but no associations with genetic characteristics were found.Conclusion. In this work, we obtained negative results in regard to associations of polymorphic variants of genes encoding the antioxidant enzymes SOD2 (rs4880), GSTO1 (rs4925), and NQO1 (rs1800566) with the development of schizophrenia in the Russian population in the Siberian region, as well as with the severity of cognitive defi cit. The genetic profi le for the studied loci did not aff ect the clinical manifestations of disease in the examined sample.

scholarly journals Molecular-genetic, immunological bases and prophylaxis of diabetes mellitus in children

2011 ◽  
Vol 57 (1) ◽  
pp. 9-18
Author(s):  
E V Titovich
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Type 1 Diabetes Mellitus ◽  
Molecular Genetic ◽  
Clinical Manifestations ◽  
Russian Population ◽  
Research Centre ◽  
Diabetic Patients ◽  
Genetic Studies

Since the autoimmune nature of type 1 diabetes mellitus came to become known some 40 years ago, continuous investigations have been carried out in an attempt to improve approaches to prognostication of this disease and develop new safe and efficacious methods for its prevention. For all that, many aspects of diabetes pathogenesis still remain far from clear. In most cases (roughly 85%), type 1 diabetes mellitus (DM1) develops sporadically in the absence of a relevant familial or hereditary history of this condition. Accordingly, the first-degree relatives account for only 15% of all DM1 patients. The risk of development of DM1 in the Russian population estimated by the researchers of the Children' Department, Endocrinological Research Centre, is relatively low (0.2%). It depends on many factors, such as the number of ill and healthy relatives, the chronological age of a given patient and the age of onset of clinical manifestations in his (her) relatives. Type 1 diabetes-predisposing and protective haplotypes were identified in the Russian population based on the results of molecular-genetic studies involving 599 children and adolescents with DM1. These and immunological data were used to distinguish between risk groups in the families of diabetic patients and the rationale was proposed for the dynamic follow-up of these subjects. It is concluded that estimation of the risk of type 1 diabetes mellitus based on the results of molecular-genetic studies and monitoring immunological markers constitutes the first step in the elaboration of preventive measures designed to prevent or delay the development of the disease.

scholarly journals Monocyte Chemoattractant Protein-1−2518 A/G Single Nucleotide Polymorphism Might Be Associated with Renal Disease and Thrombocytopenia of SLE

2010 ◽  
Vol 2010 ◽  
pp. 1-6 ◽  
Author(s):  
Piotr Piotrowski ◽  
Margarita Lianeri ◽  
Robert Gasik ◽  
Andrzej Roszak ◽  
Marzena Olesińska ◽  
...  
Keyword(s):  
Clinical Manifestations ◽  
Clinical Findings ◽  
Healthy Individuals ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Monocyte Chemoattractant Protein 1 ◽  
Monocyte Chemoattractant ◽  
Conflicting Evidence ◽  
Significant Difference ◽  
Polymorphic Variants

There is conflicting evidence on the contribution of the MCP-1 −2518 A>G (rs 1024611) polymorphism to SLE incidence and clinical manifestations. We examined the prevalence of the MCP-1 −2518 A>G polymorphism in SLE patients (n=199) and controls (n=250) in Poland. We did not observe a significant difference in the distribution of MCP-1 −2518 A>G polymorphic variants in patients with SLE and healthy individuals. However, we found an association between the GG versus AG and AA genotypes as well as the AG and GG versus AA genotypes with renal manifestations of SLEOR=3.614(1.123–11.631,P=0.0345) andOR=2.297(1.301–4.057,P=0.0046), respectively. We also observed that the MCP-1 AG and GG -genotypes contribute to the occurrence of thrombocytopenia in SLE patientsOR=2.618(1.280–5.352,P=0.0089). Our observations indicate that either MCP-1 −2518 G variant can be associated with some clinical findings in patients with SLE.

scholarly journals Molecular-genetic characteristics of strain Escherichia coli serogroup O26 causing diarrheal diseases in children

2018 ◽  
Vol 18 (3) ◽  
pp. 85-90
Author(s):  
M A Makarova ◽  
A V Dmitriev ◽  
Z N Matveeva ◽  
K A Kaftyreva
Keyword(s):  
Virulence Genes ◽  
Molecular Genetic ◽  
Clinical Manifestations ◽  
Phylogenetic Group ◽  
Intestinal Infection ◽  
Genetic Characteristics ◽  
E Coli ◽  
Saint Petersburg ◽  
Antigenic Properties ◽  
Genes Encoding

Aim. To determine the serotype and virulence factors of the E. coli serogroup O26 isolated from children with diarrheal syndrome. Materials and methods. Fifty-three strains of E. coli O26 isolated in 2014-2016 from the stool of children with clinical manifestations of acute intestinal infection in Saint Petersburg were studied. Phenotypic (enzymatic and antigenic properties), molecular genetic [detection of virulence genes of enteropathogenic (EPEC - eae, bfp, hlyA), and enterohemorrhagic (EHEC - eae, stx1, stx2, ehxA), genes encoding O- and H-antigens (rfb and fliC), genes, defining phylogenetic group (chuA, yjaA и TspE)] methods were used. The phylogenetic group and the production Shiga toxins were determined. Results. All strains were identical to the antigen characteristics of serotype O26:H11 and phylogenetic group B1. Two pathogroups were created based on the set of virulence genes: a-EPEC (64.2%) and EHEC (35.8%). Strains EHEC produced Shiga-toxin 1, encoding gen stx1. No differences in enzymatic activities were found between the strains of E. coli О26:H11 for EPEC and EHEC strains. Conclusion. In the population of E. coli O26:H11, which caused acute intestinal infection in children in Saint Petersburg, more than 30% of the strains belonged to the highly virulent group EHEC. Molecular-genetic methods should be used for reliable detection of pathogens.

scholarly journals Congenital hyperinsulinism. Results of molecular-genetic investigations in a Russian population

2012 ◽  
Vol 58 (2) ◽  
pp. 3-9 ◽  
Author(s):  
M A Melikian ◽  
M A Kareva ◽  
E E Petriaĭkina ◽  
I É Volkov ◽  
Iu V Aver'ianova ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Clinical Manifestations ◽  
First Year ◽  
Congenital Hyperinsulinism ◽  
Heterogeneous Condition ◽  
Histological Features ◽  
Pancreatic Cells ◽  
Genes Encoding ◽  
First Year Of Life ◽  
Intracellular Glucose

Congenital hyperinsulinism (CHI) is a most frequent cause of persistent hypoglycemia in the children during the first year of life. This pathology is biochemically characterized by inadequate secretion of insulin by beta-cells of the pancreas. Congenital hyperinsulinism is a highly heterogeneous condition in terms of clinical manifestations, histological features, and molecular-genetic defects underlying the development of this disorder. A total of 9 genes are known to be involved in pathogenesis of CHI. The majority of the cases (40-60%) are attributable to the defects in KCNJ11 and ABCC8 genes encoding for the ATP-dependent potassium channels in the pancreatic cells. Approximately 15-20% cases are associated with the mutations of GCK and GLUD1 genes participating in the regulation of intracellular glucose metabolism. The results of clinical, hormonal, molecular-genetic, and histological examination of 42 children presenting with congenital hyperinsulinism are reported. These data were used to analyse the genotype-phenotype relationships.

Polymorphic variants of genes encoding main antioxidant enzymes and the risk of CL/P-affected pregnancies

2007 ◽  
Vol 40 (5-6) ◽  
pp. 416-419 ◽  
Author(s):  
Adrianna Mostowska ◽  
Kamil K. Hozyasz ◽  
Margarita Lianeri ◽  
Wlodzimierz Piwowar ◽  
Pawel P. Jagodzinski
Keyword(s):  
Antioxidant Enzymes ◽  
Genes Encoding ◽  
Polymorphic Variants

Genetic variants of the TCF4, LSM1, and CCDC60 genes are associated with schizophrenia

2020 ◽  
pp. 17-19
Author(s):  
А.В. Бочарова ◽  
А.В. Марусин ◽  
С.А. Иванова ◽  
О.Ю. Федоренко ◽  
А.В. Семке ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Cognitive Abilities ◽  
Association Studies ◽  
Russian Population ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Genome Wide ◽  
Polymorphic Variants ◽  
And Control

Проведен анализ ассоциаций 30 однонуклеотидных полиморфизмов генов в группах больных шизофренией и контроле общей численностью 1020 образцов ДНК представителей русской популяции Сибирского региона. Для исследования были отобраны маркеры, показавшие ассоциацию с шизофренией или ее когнитивными эндофенотипами в широкогеномных ассоциативных исследованиях. Мультиплексное генотипирование проводилось на платформе «MassARRAY System 4». В результате проведенного анализа выявлены статистически значимые ассоциации, как для аллелей, так и для генотипов полиморфных вариантов генов TCF4, LSM1, CCDC60. Совокупность полученных данных указывает на то, что гены TCF4 и LSM1, вероятно, играют существенную роль в патогенезе шизофрении в популяциях мира. 1020 DNA samples of two groups of people (schizophrenia and control) from the Russian population were analyzed using 30 SNPs. As the analyzed markers, SNPs were selected that showed an association with schizophrenia or variability of cognitive abilities in genome-wide association studies. Multiplex genotyping was performed using the MassARRAY System 4 platform. As a result of the analysis, statistically significant associations were revealed for polymorphic variants of the TCF4, LSM1, CCDC60 genes. Our results confirm the role of the TCF4 and LSM1 genes in the schizophrenia pathogenesis in world populations.

Keratodermia

2021 ◽  
Author(s):  
Л.А. Юсупова ◽  
З.Ш. Гараева ◽  
Е.И. Юнусова ◽  
Г.И. Мавлютова ◽  
А.Р. Галимова
Keyword(s):  
Molecular Genetic ◽  
Positive Family History ◽  
Genetic Research ◽  
Clinical Manifestations ◽  
Pathological Process ◽  
Symptomatic Therapy ◽  
Toxic Substances ◽  
Diagnostic Features ◽  
Vitamin Deficiencies ◽  
Genes Encoding

В статье освещены сведения о кератодермиях – гетерогенной группе состояний, характеризующихся аномальным утолщением кожи ладоней и подошв. Традиционно выделяют приобретенные и наследственные формы. В клинической практике наиболее часто встречается гиперкератоз ладоней и подошв как одно из проявлений псориаза, экземы, дерматомикозов и многих других заболеваний. К развитию гиперкератоза ладоней и подошв могут также привести механические и токсические факторы (в том числе прием лекарственных препаратов), поступление с пищей токсических веществ, приводящих к изменениям слизистой кишечника, современные требования моды и красоты могут способствовать развитию множественного дефицита витаминов. Значительно реже встречаются наследственные формы кератодермий, являющиеся самостоятельными заболеваниями. Раннее начало и семейный анамнез предполагают генетическую природу кератодермии. Отличительными особенностями наследственных форм служат характер наследования, степень поражения эпидермиса, наличие/отсутствие распространения очагов за пределы кожи ладоней и подошв, сопутствующая патология. В основе развития наследственных форм лежат мутации различных генов, кодирующих белки (например, кератин, десмосомы, лорикрин, катепсин С, белки щелевых контактов), которые принимают участие в процессе кератинизации. Наследственные ладонно-подошвенные кератодермии имеют большую генетическую и фенотипическую неоднородность, вследствие чего постановка точного диагноза на основе одних лишь клинических проявлений, когда нет возможности выполнить молекулярно-генетическое исследование, является весьма сложной задачей. Благодаря секвенированию нового поколения был достигнут значительный прогресс в расшифровке генетической основы кератодермий. В данном обзоре рассмотрены патогенетические, клинические, диагностические особенности диффузных форм кератодермий, варианты симптоматической терапии, учитывая торпидность и резистентность патологического процесса. The article covers information about keratodermia, a heterogeneous group of conditions characterized by abnormal thickening of the skin of the palms and soles. Traditionally, acquired and hereditary forms are distinguished. In clinical practice, the most common hyperkeratosis of the palms and soles, as one of the manifestations of psoriasis, eczema, dermatomycosis and many other diseases. Mechanical and toxic factors (including taking medications), intake of toxic substances with food that lead to changes in the intestinal mucosa can also lead to the development of hyperkeratosis of the palms and soles, modern fashion and beauty requirements can contribute to the development of multiple vitamin deficiencies. Much less common are hereditary forms of keratoderma, which are independent diseases. Early onset, the presence of a positive family history suggest a genetic nature. The distinctive features of hereditary forms are the nature of inheritance, the degree of damage to the epidermis, the presence/absence of the spread of foci beyond the skin of the palms and soles, and concomitant pathology. The development of hereditary forms is based on mutations of various genes encoding proteins (for example, keratin, desmosomes, loricrin, cathepsin C, gap junction proteins), which are involved in the process of keratinization. Hereditary palmoplantar keratoderma has a large genetic and phenotypic heterogeneity, as a result of which making an accurate diagnosis based on clinical manifestations alone, when it is not possible to perform molecular genetic research, is a very difficult task. Thanks to the next-generation sequencing, significant progress has been made in deciphering the genetic basis of keratoderms. This review examines the pathogenetic, clinical, and diagnostic features of diffuse forms of keratoderma, and options for symptomatic therapy, taking into account the torpidity and resistance of the pathological process.

scholarly journals Polymorphic variants of xenobiotic metabolism genes and body mass index in schizophrenia patients receiving antipsychotic therapy

2019 ◽  
pp. 115-117
Author(s):  
I. V. Pozhidaev ◽  
A. S. Boiko ◽  
E. G. Kornetova
Keyword(s):  
Body Mass Index ◽  
Body Mass ◽  
Side Effect ◽  
Metabolic Disorders ◽  
Antipsychotic Drugs ◽  
Common Side Effect ◽  
Siberian Region ◽  
Antipsychotic Therapy ◽  
Schizophrenic Patients ◽  
Polymorphic Variants

The use of atypical antipsychotic drugs has made metabolic disorders one of the most common side effect of pharmacotherapy for schizophrenic patients. The aim of this study was to assess the contribution of polymorphic variants of genes of the P450 cytochrome system to changes in body mass index in patients with schizophrenia. As a result of the study, we did not identify significant associations of genotypes and alleles of the studied polymorphic variants of the CYP2D6, CYP1A2, CYP2C19 genes with weight gain in patients with schizophrenia of Russian nationality of the Siberian region receiving antipsychotic therapy and can revealed neither protective nor predisposing effects. Metabolic syndrome and, increase in body weight especially, are complex side effect, and further studies is needed to increase successful exploration and identification of the genetic component and assess contribution.

scholarly journals ANALYSIS OF ASSOCIATION BETWEEN THE POLYMORPHIC VARIANTS OF THE TLR2 (RS5743708) AND TLR4 (RS4986790, RS4986791) GENES WITH THE HEALTH STATUS OF APPARENTLY HEALTHY INDIVIDUALS

2018 ◽  
Vol 22 (1-2) ◽  
pp. 17-22
Author(s):  
O.V. Izmailova
Keyword(s):  
Health Status ◽  
Clinical Manifestations ◽  
Nucleotide Polymorphisms ◽  
Healthy Individuals ◽  
Tlr2 Gene ◽  
Pcr Products ◽  
Tlr4 Gene ◽  
Hardy Weinberg Equilibrium ◽  
Polymorphic Variants ◽  
Apparently Healthy

Тhe study of single-nucleotide polymorphisms of Toll-like receptors has an important applied and theoretical value for revealing the mechanisms in formation of immunity features and its correction. The aim of the research was to study the available frequency of polymorphic variants of the TLR2 gene (rs5743708) and 896A/G (rs4986790), 1196C/T (rs4986791) of the TLR4 gene, and to assess the association with the health status of apparently healthy individuals. Materials and methods: the study involved 114 Caucasian individuals living in Poltava or Poltava oblast for a minimum of 2 years, who underwent the collection of anamnestic data, as well as the data of objective and clinical examinations. The polymorphic sites of the TLR2 (rs5743708) and TLR4 genes (rs4986790, rs4986791) were determined by polymerase chain reaction (PCR) followed by analysis of the restriction fragments length of the PCR products. The results of distribution of polymorphic variants 2258G/A in the genotypes of the TLR2 gene (rs5743708), 896A/G of the TLR4 gene (rs4986790), and 1196C/T of the TLR4 gene (rs4986791) corresponded to the theoretically expected ones at the Hardy-Weinberg equilibrium (χ2 = 0.02, р = 0.99; χ2 = 0.29, р = 0.86; χ2 = 1.46, р = 0.48, respectively). When comparing the presence of individual clinical manifestations that were detected during the interviewing, with the presence of polymorphic alleles in the genotype, a reliable relationship was established between the presence of the A allele in the polymorphic version of the TLR2 gene (rs5743708) in the genotype with rheumatism (p = 0.05), pyelonephritis (p = 0.05) and a bad habit of smoking (p = 0.04).

Association of genetic polymorphism of cytokines and antioxidant enzymes with the development of asbestosis

2020 ◽  
Vol 60 (12) ◽  
pp. 898-903
Author(s):  
Lyudmila P. Kuzmina ◽  
Anastasiya G. Khotuleva ◽  
Evgeniy V. Kovalevsky ◽  
Nikolay N. Anokhin ◽  
Iraklij M. Tskhomariya
Keyword(s):  
Antioxidant Enzymes ◽  
Genetic Polymorphism ◽  
Genetic Predisposition ◽  
Risk Groups ◽  
Dust Exposure ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Gstp1 Gene ◽  
Polymorphic Variants

Introduction. Various industries widely use chrysotile asbestos, which determines the relevance of research aimed at the prevention of asbestos-related diseases. It is promising to assess the role of specific genes, which products are potentially involved in the development and regulation of certain links in the pathogenesis of asbestosis, forming a genetic predisposition to the disease. The study aims to analyze the presence of associations of genetic polymorphism of cytokines and antioxidant enzymes with asbestosis development. Materials and methods. Groups were formed for examination among employees of OJSC "Uralasbest" with an established diagnosis of asbestosis and without lung diseases. For each person included in the study, dust exposure doses were calculated considering the percentage of time spent at the workplace during the shift for the entire work time. Genotyping of single nucleotide polymorphisms of cytokines IL1b (rs16944), IL4 (rs2243250), IL6 (rs1800795), TNFα (rs1800629) and antioxidant enzymes SOD2 (rs4880), GSTP1 (rs1610011), CAT (rs1001179) was carried out. Results. The authors revealed the associations of polymorphic variants A511G IL1b gene (OR=2.457, 95% CI=1.232-4.899) and C47T SOD2 gene (OR=1.705, 95% CI=1.055-2.756) with the development of asbestosis. There was an increase in the T allele IL4 gene (C589T) frequency in persons with asbestosis at lower values of dust exposure doses (OR=2.185, 95% CI=1.057-4.514). The study showed the associations of polymorphism C589T IL4 gene and C174G IL6 gene with more severe asbestosis, polymorphism A313G GSTP1 gene with pleural lesions in asbestosis. Conclusion. Polymorphic variants of the genes of cytokines and antioxidant enzymes, the protein products directly involved in the pathogenetic mechanisms of the formation of asbestosis, contribute to forming a genetic predisposition to the development and severe course of asbestosis. Using the identified genetic markers to identify risk groups for the development and intense period of asbestos-related pathology will optimize treatment and preventive measures, considering the organism's characteristics.

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