Autoantibodies against type 1 interferons (IFN-I) are a highly specific marker for type 1 autoimmune polyglandular syndrome (APS-1). Moreover, determination of antibodies to omega-interferon (IFN-ω) and alpha2-interferon (IFN-α2) allows a short-term diagnosis in patients with isolated and atypical forms of APS-1. In this study, a comparison of three different methods, namely multiplex microarray-based, cell-based and enzyme-linked immunosorbent assays for detection of antibodies against omega-interferon and alpha2-interferon, was carried out. A total of 206 serum samples from adult patients with APS-1, APS-2, isolated autoimmune endocrine pathologies or non-autoimmune endocrine disorders, and healthy individuals were analyzed. In the APS-1 patient cohort (n = 18), there was good agreement between the results of anti-IFN-I antibody tests performed by three methods, with 100% specificity and sensitivity for microarray-based assay. Although only the cell-based assay can determine the neutralizing activity of autoantibodies, the microarray-based assay can serve as a highly specific and sensitive screening test to identify anti-IFN-I antibody positive patients.

The formation of biobanks in the structure of scientific and treatment and diagnostic institutions with prospects for interregional integration is a fundamental link in monitoring and predicting diseases of various origins, creating and testing highly effective diagnostics, and developing novel therapeutic agents. Aim . To describe standard operating procedures and principles for the formation of bioresource collections (BRC) in medical institutions with biobanking. Material and methods . The data of scientific and practical biomedical projects using BRC obtained from patients with genetic, multifactorial and infectious diseases in St. Petersburg and Surgut are presented. As of September 2022, the BRC collected on the basis of the Pediatric Research and Clinical Center for Infectious Diseases of the Federal Medical and Biological Agency includes biosamples from 1619 patients, and the BRC collected in the Medical Institute of Surgut State University includes biosamples from 450 patients and healthy individuals of different sex and age. The selection of biosamples from apparently healthy individuals and patients with various diseases can serve as a strategically important resource for future research in terms of etiology, epidemiology, the development of regulatory environment and scales, innovations in the development of diagnostic approaches and treatment of the Russian population.

Successful reproduction in mammals requires gamete development, fertilization, and early embryonic development. Defects in any of these processes can lead to infertility, recurrent miscarriages, and congenital defects. The clinical recognition of the genetic causes of female reproductive insufficiency using increasingly advanced genetic technologies poses a serious challenge for reproductive medicine in the 21 ^st century. Herein, current literature on genetic factors involved in reproductive losses was summarized. A literature search was conducted using Web of Science, MEDLINE, and PubMed databases for articles written in English on the genetic causes of women’s reproductive health disorders. Future implementation of whole-exome and -genome sequencing is expected to identify numerous genetic factors responsible for oocyte quality. Which will aid in increasing the likelihood of successful female reproductive function, improve the outcomes of assisted reproductive technologies, optimize treatment, and facilitate genetic diagnosis of patients.

Cardiovascular diseases (CVD) are a leading cause of mortality in many countries worldwide. Genetic testing is an integral part of CVD prevention. The most common hereditary diseases in the practice of a cardiologist are cardiomyopathy and channelopathy (arrhythmogenic syndromes), as well as familial hypercholesterolemia, which causes a high risk of atherosclerosis and coronary heart disease (CHD). The total carrier frequency of pathogenic variants is 1:100. Timely genetic diagnosis is necessary for conditions that can lead to sudden cardiac death (for example, long QT syndrome, Brugada syndrome, arrhythmogenic cardiomyopathies). Pharmacogenetic testing is also important in cardiology, since it allows taking into account the role of genetic factors in the formation of a response to therapy. Incorporating individual patient characteristics can increase efficiency and minimize the likelihood of complications. The design of modern targeted cardiopanels must necessarily take into account monogenic and oligogenic forms of dyslipidemia and cardiovascular pathologies, polymorphic markers associated with a violation of the lipid spectrum of blood plasma and the early development of CVD in a particular population, as well as a minimum set of pharmacogenetic markers according to modern recommendations for clinical pharmacologists. In this review we provide a justification for the optimal design of such a panel for use in medical practice and scientific research.

Aim. To determine the associations of allelic variants of the CYP2C19 gene with coronary atherosclerosis and ischemic events in patients with myocardial infarction (MI) living in the Khanty-Mansi Autonomous Okrug — Yugra.Material and methods. This prospective observational study included 203 patients with acute MI who underwent percutaneous coronary intervention. Patients also underwent genetic testing using real-time polymerase chain reaction to determine allelic variants of the CYP2C19 gene. Using biostatistical analysis methods, associations were established between the genotypes of patients with MI, their clinical characteristics and major ischemic events over 7-year follow-up.Results. Significant associations were identified between allelic variants of CYP2C19*2 (*1/*2 and *2/*2) and smoking, right ventricular volume and glomerular filtration rate (GFR). The presence of the allelic variant CYP2C19*3 (*3/*3) was associated with GFR ³90 ml/min/1,73 m² and impaired glucose tolerance. A significant association was established between the CYP2C19*17 alleles (*1/*17, *17/*17) with coronary atherosclerosis, smoking, levels of troponin T, aspartate aminotransferase, total cholesterol, left ventricular posterior wall thickness, and a history of myocardial infarction. Data from multivariate analysis showed a clear association of allelic variants of CYP2C19*2 (*1/*2 and *2/*2) with the composite endpoint of 7-year follow-up (death, recurrent myocardial infarction, stent/bypass thrombosis, myocardial revascularization). A significant influence of CYP2C19*17 genotypes (*1/*17 and *17/*17) on myocardial revascularization in patients in the post-infarction period was also determined.Conclusion. CYP2C19*2 genotypes (*1/*2 and *2/*2) in MI patients living in Khanty-Mansi Autonomous Okrug — Yugra are clearly associated with ischemic events during a 7-year follow-up. CYP2C19*17 genotypes (*1/*17 and *17/*17) are clearly associated with coronary atherosclerosis and myocardial revascularization in the long-term post-infarction period.

Osteogenesis imperfecta (OI) is a group of inherited disorders of connective tissue that cause significant deformities and fragility in bones. Most cases of OI are associated with pathogenic variants in collagen type I genes and are characterized by pronounced polymorphisms in clinical manifestations and the absence of clear phenotype–genotype correlation. The objective of this study was to conduct a comprehensive molecular–genetic and clinical analysis to verify the diagnosis of OI in six Russian patients with genetic variants in the COL1A1 and COL1A2 genes. Clinical and laboratory data were obtained from six OI patients who were observed at the Medical Genetics Center in Saint Petersburg from 2016 to 2023. Next-generation sequencing on MGISEQ G400 (MGI, China) was used for DNA analysis. The GATK bioinformatic software (version 4.5.0.0) was used for variant calling and hard filtering. Genetic variants were verified by the direct automatic sequencing of PCR products using the ABI 3500X sequencer. We identified six genetic variants, as follows pathogenic c.3505G>A (p. Gly1169Ser), c.769G>A (p.Gly257Arg), VUS c.4123G>A (p.Ala1375Thr), and c.4114A>T (p.Asn1372Tyr) in COL1A1; and likely pathogenic c.2035G>A (p.Gly679Ser) and c.739-2A>T in COL1A2. In addition, clinical cases are presented due to the presence of the c.4114A>T variant in the COL1A2 gene. Molecular genetics is essential for determining different OI types due to the high similarity across various types of the disease and the failure of unambiguous diagnosis based on clinical manifestations alone. Considering the variable approaches to OI classification, an integrated strategy is required for optimal patient management.