Genetics
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. ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 synergetic role. ...
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 and ...
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 ...
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 preeclampsia, make ...
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. Chaperone ...
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 unfolded ...
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 such ...
The role of highly penetrant mutations in BRCA1 and CHEK2 genes in the pattern of associations of matrix metalloproteinase gene polymorphisms with breast cancer
Volume 8, Issue №2, 2022
Background: Breast cancer (BC) is a malignant breast tumor, which occupies a leading place both in the structure of oncological diseases in women and among the causes of female ...
Germline mutations as possible biomarkers of immune checkpoint inhibitor therapy efficacy in patients with renal cell carcinoma (mini review)
Volume 8, Issue №2, 2022
Background: The use of immune checkpoint inhibitors (ICIs) is a promising therapy in cancer treatment, in particular renal cell carcinoma (RCC). Despite the revolutionary breakthrough in cancer treatment, a ...
