Genetics
Analysis of polymorphic variants of serotonin and gamma-aminobutyric acid receptor genes in patients with type 2 diabetes mellitus
Volume 9, Issue №3, 2023
Background: Type 2 diabetes mellitus (T2DM) is an expanding global health problem of the 21st century. There has been a global increase in the number of patients with ...
Associations of polymorphic variants of candidate genes with the development of H. pylori-negative duodenal ulcer in residents of the Central Chernozem region of Russia
Volume 9, Issue №3, 2023
Background: Peptic ulcer disease (PUD) is a chronic recurrent disease that occurs with alternating periods of exacerbation and remission, the leading manifestation of which is the formation of ...
Outcomes of ROHs (runs of homozygosity)/LCSHs (long contiguous stretches of homozygosity) spanning the imprinted loci of chromosomes 7, 11 and 15 among children with neurodevelopmental disorders
Volume 9, Issue №3, 2023
Background: Runs of homozygosity or long contiguous stretches of homozygosity (ROHs/LCSHs) are common in the human genome. ROHs/LCSHs spanning the imprinted loci have been previously associated with ...
The role of DNA methylation in lung cancer (review)
Volume 9, Issue №3, 2023
Background: Lung cancer has been a difficult-to-treat disease for decades, despite the efforts of oncologists and pharmaceutical companies. One of the reasons for this is the heterogeneity ...
Genetic markers of knee osteoarthritis in women of the Central Chernozem region of Russia
Volume 9, Issue №2, 2023
Background: Knee osteoarthritis (KO) is a multifactorial disease. Among the many risk factors for the disease, the role of the hereditary component is undeniable. The share of genetic ...
Association between mitochondrial DNA copy numberand high viral load in women with high-risk human papillomavirus
Volume 9, Issue №2, 2023
Background: The infection that most often leads to cervical cancer is human papillomavirus (HPV) infection. A sign that the HPV infection might develop into cancer is mitochondrial ...
A replication study of genetic variants associated with high-level musical aptitude
Volume 9, Issue №2, 2023
Background: Existing genetic studies on musical abilities have focused on various molecular approaches, which determined gene regions/variants implicated in (i) music perception and performance based on genome-wide linkage ...
Mendelian randomization: using genetic information in epidemiological studies (review)
Volume 9, Issue №2, 2023
Background: Mendelian randomization is a research method that exploits the instrumental variable framework using genetic information to assess the causality of the relationship between modifiable risk factors and ...
Allelic polymorphism of genes involved in IL-1β production and predisposition of people to the development of arterial hypertension
Volume 9, Issue №1, 2023
Background: The level of IL-1β in blood plasma is determined not only by pro-inflammatory stimuli, but also by allelic polymorphism of the IL1B and NLRP3 genes. Information on ...
The role of molecular genetic changes in the structure of the CDH1 gene in the development of gastric cancer in patients from the Republic of Bashkortostan
Volume 9, Issue №1, 2023
Background: Gastric cancer (GC) is one of the most serious diseases, occupying a leading position among the causes of death from malignant neoplasms in the world. The Republic ...
Polymorphic loci of AC026703.1 and HFE genes are associated with severe hypertension
Volume 9, Issue №1, 2023
Background: Hypertension (HT) is characterized by high blood pressure (BP) and is one of the most common diseases in the world. At the moment, there is information ...
Genetic determinants of sex hormone levels in endometriosis patients
Volume 9, Issue №1, 2023
Background: Endometriosis is a chronic hormone-dependent inflammatory disease determined by the presence of foci of the endometrial tissue outside the uterine cavity. Genetic factors occupy a leading ...
Knock-out of α-, β-, and γ-synuclein genes in mice leads to changes in the distribution of several lipids in the liver and blood plasma
Volume 8, Issue №4, 2022
Background: In addition to the role of synuclein proteins in synaptic transmission through binding with lipid membranes, the function of synucleins in reactions of the synthesis of lipids ...
Association of the rs10508336 polymorphism of the TAF3 transcription factor gene with the risk of lower limb arterial disease in the Russian population
Volume 8, Issue №4, 2022
Background: Atherosclerosis obliterans (AO) and diabetic angiopathy (DA) are known to be peripheral artery diseases (PAD) of multifactorial origin, in which genetic and environmental factors play a ...
Molecular cytogenetic and cytopostgenomic analysis of the human genome
Volume 8, Issue №4, 2022
Background: Despite the achievements of human genomics, comprehensive genome analysis, including acquiring the knowledge about intercellular and interindividual variations at (sub)chromosomal/cytogenomic level, remains a difficult task. This basically ...
Study of the exosomal microRNA-126 and microRNA-218 expression profiles in patients with hemorrhagic fever with renal syndrome (HFRS)
Volume 8, Issue №4, 2022
Background: Hemorrhagic fever with renal syndrome (HFRS), caused by orthohantaviruses, occupies one of the leading places among natural focal human diseases, for which there are no modern ...
Genetic variation of ERN1 and susceptibility to type 2 diabetes
Volume 8, Issue №3, 2022
Background: The endoribonuclease IRE1 (ERN1) is an important sensor for the endoplasmic reticulum unfolded protein response (UPR), and its activation happens as a result of the accumulation of ...
Study of the cytokine genes SNPs association with the characteristics of the immunological status of children with recurrent respiratory infection
Volume 8, Issue №3, 2022
Background: Herpesvirus infections are one of the most common human infections that play a special role in children with recurrent respiratory infection cohort formation. The immunological status of ...
C9orf16(BBLN) gene, encoding a member of Hero proteins, is a novel marker in ischemic stroke risk
Volume 8, Issue №3, 2022
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. ...
Genetic markers of severe preeclampsia
Volume 8, Issue №3, 2022
Background: In modern medicine, close attention is paid to the issues of reducing maternal morbidity and mortality, to the structure of which hypertensive disorders of gestation, especially ...
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