Genetics
Bioinformatic analysis of microduplications at 5p15.33: identification of TPPP as a candidate gene for autism and intellectual disability
Volume 6, Issue №4, 2020
Background: Autism is a common psychiatric disorder in children. Since autism is a multifactorial disease, the genetic predisposition plays a significant role in the pathogenesis. However, numerous studies focused ...
Single nucleotide polymorphisms in genes encoding xenobiotic metabolizing enzymes are associated with predisposition to arterial hypertension
Volume 6, Issue №4, 2020
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 ...
Modern genomics in studying the problems of human adaptation to climate in north Siberia
Volume 6, Issue №3, 2020
Background: Indigenous people of north Siberia live in some of the harshest natural conditions on Earth, experiencing prolonged exposure to cold, large fluctuations in the length of daylight, ...
Association of L432V (rs1056836) polymorphism of the CYP1B1 gene with the increased risk of colorectal cancer in the population of Central Russia
Volume 6, Issue №3, 2020
Background: Colon malignancies are one of the most common worldwide. Different pro-carcinogenic agents such as polycyclic aromatic hydrocarbons (PAH) and heterocyclic aromatic amines can potentially play a key role ...
2q14 de novo interstitial deletion in a girl with intellectual disabilities and malformations
Volume 6, Issue №3, 2020
Background: Neurodevelopmental disorders have a prevalence of approximately 3% in the population, the genetic factor is involved in this condition. Microdeletions that comprise the 2q14.1q14.3 region are rare ...
Aplastic anemia, clinical implications and DNA damage in workers with occupational exposure to aromatic hydrocarbons in Rio de Janeiro
Volume 6, Issue №3, 2020
Background: Brazilian gas station workers (GWS) are daily exposed to petroleum-derived hydrocarbons which are harmful. The aim of the study: The aim of this study was to evaluate the clinical ...
Polymorphism of the VEGFA gene, smoking and coronary heart disease: the significance of gene-environmental interactions for disease susceptibility
Volume 6, Issue №3, 2020
Background: Coronary heart disease (CHD) is a common disease with a high mortality rate in Russia, so the problem of early prognosis and prevention of this disease is ...
Study of associations of candidate genes differentially expressed in the placenta with the development of placental insufficiency with fetal growth restriction
Volume 6, Issue №3, 2020
Background: Placental insufficiency (PI) is a key feature of pregnancies with fetal growth restriction (FGR). FGR is defined as pathological inhibition of intrauterine growth of the fetus and ...
A replicative study of the associations of polymorphic loci of the LOXL1 and CDKN2B-AS1 genes with the development of primary open-angle glaucoma in men of the Central Black Earth Region of the Russian Federation
Volume 6, Issue №2, 2020
Background: Studying the genetic foundations of primary open-angle glaucoma (POAG) is an urgent task due to the fact that glaucoma is the main cause of low vision and ...
Molecular karyotyping of chromosomal anomalies and copy number variations (CNVs) in idiopathic forms of intellectual disability and epilepsy
Volume 6, Issue №2, 2020
Background: Genetic factors play an important role in the etiology of idiopathic intellectual disability and epilepsy. The intensive introduction of molecular cytogenetic technologies in medical practice has made ...
Association of RS12328675 COBLL1 polymorphism with coronary heart disease and intermediate phenotypes of atherosclerosis: validation study in Central Russia
Volume 6, Issue №2, 2020
Background: It is known that the development of coronary heart disease (CHD) as a polygenic multifactorial pathology is determined by a complex interaction between genetic and environmental factors. ...
Study of associations of haplotypes of FLG gene polymorphism with the development of chronic true eczema in men
Volume 6, Issue №2, 2020
Background: Eczema is a common chronic disease characterized by inflammation of the skin. The aim of the study: To analyze the involvement of haplotypes of polymorphic loci of ...
A novel heterozygous variant in exon 32 of the CHD7 gene (c.6923C>T) in a Syrian family with Kallmann syndrome
Volume 6, Issue №2, 2020
Background: Kallmann syndrome (KS) and CHARGE syndrome (CS) are rare heritable disorders in which anosmia and hypogonadotropic hypogonadism co-occur. KS is genetically heterogeneous with at least eight genes ...
ZNF804A rs1344706 gene polymorphism and clinical heterogeneity of schizophrenia
Volume 6, Issue №1, 2020
Background: Replication of genome-wide association study (GWAS) loci for schizophrenia in different populations as well as the study of their specificity for disease are important issues in searching ...
The contribution of gene-gene interactions of polymorphic loci of matrix metalloproteinases to susceptibility to primary open-angle glaucoma in men
Volume 6, Issue №1, 2020
Background: Primary open-angle glaucoma (POAG) is a serious form of eye diseases leading to blindness and disability. Glaucoma in men occurs in more than half of cases (65%). ...
Contribution of rs11927381 polymorphism of the IGF2BP2 gene to the pathogenesis of type 2 diabetes
Volume 6, Issue №1, 2020
Background: Pancreatic beta-cell dysfunction, along with the insulin resistance of peripheral tissues, is a key element in the pathogenesis of type 2 diabetes (T2D). In this regard, of ...
The study of the association of polymorphic loci of the folate cycle genes with the development of the 2-3-degree fetal growth restriction syndrome
Volume 6, Issue №1, 2020
Background: Folate cycle enzymes regulate key reactions in folate-mediated single-carbon metabolism. The folate cycle disturbances may be associated with the occurrence of placental insufficiency with fetal growth restriction ...
The role of polymorphic variants of the contactin-associated-like protein-2 (CNTNAP2) gene in the formation of differences in anxiety levels
Volume 6, Issue №1, 2020
Background: The study of the multifactor nature of anxiety is caused by its role in multiple aspects of human development including physical and mental health, emotional sphere and social ...
New data collection priority: focusing on genome-based bioinformation
Volume 6, Issue №1, 2020
Genetic research used to be data-driven under the framework of well-established gene theory. With the advance of various-omics technologies, large-scale data generation has become routine. However, data analyses ...
Population analysis of the polymorphic marker rs1002149 of the glutathione reductase gene in residents of the Republic of Bashkortostan and Abkhazia
Volume 5, Issue №4, 2019
Background: Positioned as one of the central members in cellular antioxidant defense, glutathione reductase (GSR) determines the oxidative status of a cell. The level of its activity changes in ...
