Genetics
Mendelian randomization in eye disorders (review)
Volume 10, Issue №1, 2024
Background: Mendelian randomization (MR) is an analytic approach in genetic epidemiology which uses the results of genome-wide association studies (GWAS) to assess causal relationships between various risk ...
Clinical and genetic characteristics of cystic fibrosis in the Republic of Bashkortostan
Volume 9, Issue №4, 2023
Background: According to estimates of the World Health Organization, 40-50 thousand children worldwide are born each year with cystic fibrosis (CF), a monogenic disease with genetic heterogeneity and ...
Prospects for the investigation of retroelements for COVID-19 therapy (review)
Volume 9, Issue №4, 2023
Background: The search for methods to detect COVID-19 using genetic advances can become the basis for an effective fight against this viral infection. Targeted therapy using non-coding RNAs ...
NOS3 gene polymorphism variants and main characteristics of heart rate variability in Northerners
Volume 9, Issue №4, 2023
Background: Heart rate variability as a demonstration of autonomic nervous system function reflects human health and well-being. By monitoring heart rate variability indices and focusing on the imbalance ...
The link of single nucleotide polymorphism rs4880 of the SOD2 gene to the development of microvascular complications of type 2 diabetes mellitus
Volume 9, Issue №4, 2023
Background: The superoxide dismutase 2 (SOD2) gene encodes a mitochondrial enzyme whose main function is to convert superoxide anion to hydrogen peroxide. A genetically determined decrease in the ...
Study of microbiome aberrations in patients with irritable bowel syndrome with diarrhea by next-generation sequencing
Volume 9, Issue №4, 2023
Background: Irritable bowel syndrome (IBS) is a common functional disorder of the gastrointestinal tract (GIT). Despite the prevalence of this disease, our understanding of the etiology remains limited. ...
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 T2DM. ...
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 neurodevelopmental disorders. ...
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 of the ...
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 a ...
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 factors ...
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 health ...
Association between mitochondrial DNA copy number and 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 dysfunction 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 of ...
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 ...
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 in the ...
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 results ...
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 accurate and highly ...
