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Genetics

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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. ...

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 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 ...
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