Genetics
Geno-phenotypic features of cystic fibrosis in Russian children from the Chechen and Karachay-Cherkess Republics
Volume 10, Issue №3, 2024
Background: Cystic fibrosis (CF) is an autosomal recessive disease that occurs with a frequency of 1:1,500 to 1:5,000 newborns, according to the World Health Organization. In the ...
Relationship between polymorphism rs1546155 of the GGT7 gene and the risk of ischemic stroke
Volume 10, Issue №3, 2024
Background: Since oxidative stress plays a role in the pathogenesis of ischemic stroke (IS), it is important to investigate the molecular mechanisms contributing to redox homeostasis and ...
Polymorphism in the matrix metallopeptidase genes is associated with coronary artery disease risk with concomitant metabolic syndrome
Volume 10, Issue №2, 2024
Background: Metabolic syndrome (MS) and its components are the reasons of the development and progression of cardiovascular diseases. Nowadays, the association between coronary artery disease and MS ...
Genetic variant rs11568818 of matrix metalloproteinase MMP7 associated with newborn weight in pregnant women with fetal growth restriction
Volume 10, Issue №2, 2024
Background: Fetal growth restriction is a common complication of pregnancy that has been associated with a variety of adverse perinatal outcomes. The condition carries significant risks of ...
Search for molecular markers of joint hypermobility
Volume 10, Issue №2, 2024
Background: Joint hypermobility (JH) is a condition that can be either benign or accompanied by pain and early development of osteoarthritis. For early verification of the risk of ...
HSPD1 gene polymorphism is associated with an increased risk of ischemic stroke in smokers
Volume 10, Issue №2, 2024
Background: Ischemic stroke (IS) is a leading cause of death and disability worldwide. Since the influence of vascular stressors prompts cross-reactivity with microbial and human HSPD1 (HSP60), which ...
Retroelements in targeted antitumor therapy (review)
Volume 10, Issue №1, 2024
Background: Pathological expression of retroelements is determined in most malignant tumors, which reflects the pathogenesis of tumors, since activated retrotransposons cause genomic instability due to a cascade of mutual ...
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 ...
Sex-specific features of interlocus interactions determining susceptibility to hypertension
Volume 10, Issue №1, 2024
Background: Hypertension (HT) belongs to a group of widespread diseases in both men and women, but at the same time the disease is more often registered (≈20%) in ...
Features of associations of SHBG-related genes with breast cancer in women, depending on the presence of hereditary burden and mutations in the BRCA1/CHEK2 genes
Volume 10, Issue №1, 2024
Background: One of the most common diseases of the female population is breast cancer (BC), which is a hormone-dependent pathology and has a significant hereditary component. Candidate ...
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 ...
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 ...
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 ...
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. ...
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 ...
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 ...
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 ...
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 ...
