Background. Chronic periodontitis is a complex, multifactorial inflammatory disease. According to fundamental twin studies, the contribution of hereditary factors to the variability in disease severity reaches 50%. Despite this, the integration of genetic data into clinical practice remains challenging, necessitating a revision of outdated diagnostic paradigms and a search for new risk stratification tools.

Objective: to systematize current data on the genetic architecture of chronic periodontitis, analyze the efficacy of various methodological approaches (from candidate genes to genome-wide association studies), and determine the role of polygenic risk scores (PRS) in the development of precision periodontology.

Methods. A search for original studies and systematic reviews was conducted in the PubMed, Scopus, and Web of Science databases. The search was performed using the following keywords: «chronic periodontitis», «genetics», «GWAS», «polygenic risk score», and their Russian equivalents. The analysis primarily included publications from 2010–2025, reflecting the current stage of genetic research, excluding conference abstracts and studies focused exclusively on aggressive forms of periodontitis.

Results. The «classical» candidate gene approach has revealed numerous associations; however, it has demonstrated low reproducibility and pronounced ethnic specificity, thereby limiting its clinical application. The introduction of genome-wide association studies (GWAS) has shifted the pathogenetic paradigm by identifying new loci (e.g., DEFA1A3, SIGLEC5) that show high reproducibility in independent studies. These findings suggest that the primary cause of the disease may involve not only hyperinflammation mechanisms but also defects in innate immunity. Furthermore, it has been shown that a critical prerequisite for successful genetic research is the transition from binary «casecontrol» phenotyping to the analysis of disease Grade — the rate of tissue destruction progression. The construction of polygenic risk scores (PRS) based on GWAS data has allowed for overcoming the limitations of single genetic marker analysis. The main advantage of PRS is its high predictive value and the capacity for quantitative risk stratification, the accuracy of which reaches its maximum when predicting severe forms of periodontitis.

Background. Emissions from coal-fired power plants can have a detrimental impact on both the environment and worker health. However, the role of genetic variation in individual susceptibility to environmental factors at coal-fired power plants remains understudied due to the limited number of studies.

Objective. To conduct an analysis of cytogenetic abnormalities associated with genetic polymorphism in workers of coal-fired thermal power plants.

Methods. This study assessed cytogenetic abnormalities detected using the lymphocyte micronucleus test in connection with polymorphic variants of the GSTP1 rs1138272, GSTM1 (del), GSTT1 (del), NAT2 rs1799929, and CYP1A1 rs4646903 genes in 455 workers at coal-fired thermal power plants in Kemerovo and 533 residents of the same region unrelated to the industry.

Results. An increased frequency of micronuclei, nucleoplasmic bridges, protrusions, and apoptotic cells, as well as a decreased frequency of mitotic cells, were found in coal-fired power plant workers compared to controls. A minor variant of the NAT2 gene, rs1799929, and deletions in GSTT1 and GSTM1 were found to influence the level of micronuclei and protrusions in the blood cells of coal-fired power plant workers.

Conclusions. The obtained data allow us to identify NAT2 rs1799929, GSTT1 and GSTM1 deletions as biomarkers of genotoxic risk in individuals performing key production operations in coal mining.

Neuronal ceroid lipofuscinosis type 2 (NCL2) is a rare autosomal recessive neurodegenerative disorder caused by mutations in the TPP1 gene, resulting in a reduction or complete loss of activity of the lysosomal enzyme tripeptidyl peptidase 1 (TPP1).

This retrospective study provides the first systematic description of NCL2 in the Russian Federation. It includes an analysis of clinical manifestations, as well as biochemical and molecular genetic results from 50 patients with NCL2. The study characterizes the progression of phenotype development and identifies the onset and primary clinical symptoms.

The diagnosis of NCL2 was confirmed using biochemical and molecular genetic methods. In recent years, next-generation sequencing (NGS) has played a leading role among these techniques. During the study, nine different pathogenic variants in the TPP1 gene (NM_000391.3) were identified, including one variant not previously reported in the literature. A high frequency of the c.622C>T variant (75% of all mutant alleles) and the c.89+5G>C variant (14% of all mutant alleles) was observed.

A significant delay in diagnosis was identified, highlighting the need to develop diagnostic programs for the early detection of NCL2, especially in light of emerging pathogenetic therapies.

A separate section of the study is dedicated to analyzing the first domestic experience with enzyme replacement therapy (ERT) using cerliponase alfa. The findings indicate that early initiation of ERT can slow the progression of neurological symptoms, and the treatment’s effectiveness depends on how soon therapy begins.

Huntington disease is a late-onset, expansion-based disorder. It has specific considerations for planning and conducting preimplantation genetic testing for monogenic disorders (PGT-M). The disease is a relatively common indication for PGT-M worldwide. Our study describes one of the first successful cases of PGT-M for Huntington disease in Russia, based on published data. IVF with PGT-M followed by PGT-A (preimplantation genetic testing for aneuploidy) was performed for a couple in which the woman had preclinical disease. IVF was performed according to standard protocols. PGT-M was performed using PCR and fragment analysis for six informative STRs selected during the preliminary stage and repeats of the HTT gene. PGT-A was performed using aCGH (array comparative genomic hybridization). A total of seven embryos were tested. The transfer of one embryo, selected based on the results of PGT, resulted in a singleton pregnancy, which resulted in the successful birth of a healthy child. The postnatal diagnosis confirmed the normal status in newborn with regard to Huntington disease.

The expansion of neonatal screening to include additional diseases requires the introduction of new diagnostic kits, which in turn necessitates multi-stage validation and comparative testing to evaluate their suitability for clinical use. In this study, we present the results of the first comparative assessment of a reagent kit for neonatal screening of 5q spinal muscular atrophy (SMA) and severe Tand/or B-cell primary immunodeficiencies (PID), manufactured by Rossa (Uzbekistan). The comparative analysis was performed using the EONIS reagent kit manufactured by Revvity (Finland) as a reference method. Preliminary results demonstrate concordance between the two approaches in detecting homozygous deletion of exon 7 of the SMN1 gene and in quantifying TREC and KREC levels in dried blood spot samples from newborns. These findings support the feasibility of the tested reagent kit and provide a basis for further validation studies of the Rossa kit to assess its analytical performance and define appropriate cutoff values for implementation in neonatal screening programs.

Background. Bronchopulmonary diseases, including bronchial asthma (BA), are a significant health concern among the indigenous populations of the Far North. Deficiency of mannose-binding lectin (MBL), which participates in the opsonization of respiratory pathogens, is associated with infections that contribute to BA exacerbations. Single nucleotide polymorphisms (SNPs) in the MBL2 gene are known risk factors for multifactorial pathologies.

Aim: 1) to perform a comparative analysis of the genotype and allele frequencies of MBL2 polymorphisms rs7096206 and rs7095891 in the Nenets and Dolgan-Nganasan populations relative to the Russian population; 2) to evaluate the association of these polymorphisms with bronchial asthma in the Russian population (case-control study).

Methods. The study samples included: newborns from the Nenets (n=261) and Dolgan-Nganasan (n=104) populations, Russian children with BA (n=400), and Russian children without asthma or chronic diseases (n=229). Genotyping was performed using real-time PCR. Results. The CC genotypes of rs7096206 and rs7095891 were significantly more frequent in the Nenets compared to Russians (p<0.001). In Dolgan-Nganasans, a trend towards a higher frequency of the CC genotype (p=0.020) of rs7095891 was observed. The case-control analysis in the Russian population revealed no statistically significant association of either polymorphism with bronchial asthma (p>0.05).

Conclusions. A higher frequency of MBL2 CC genotypes (rs7096206 and rs7095891), previously associated with reduced MBL levels, was identified in the Nenets population, with a similar trend in Dolgan-Nganasans. No association with BA was observed in Russians, highlighting the heterogeneity of genetic factors in this disease. These findings warrant further studies to evaluate the contribution of these genetic variants to respiratory morbidity in indigenous populations of the North.

The use of neuroprotective drugs is a key approach in the treatment of ischemic stroke. Natural peptides, including adrenocorticotropic hormone (ACTH), can serve as the basis for such drugs. The synthetic peptide ACTH(4-7)PGP (Semax) has pronounced nootropic and neuroprotective effects. We previously demonstrated that Semax compensates for changes in gene expression in the rat brain that occur during cerebral ischemia; however, the nature of Semax’s compensatory effect at the transcriptome level remains unclear. We also previously demonstrated that the level of noncoding circular RNAs (circRNAs) significantly changes in the rat brain under ischemic conditions. These circRNAs can act as molecules regulating gene expression by controlling microRNA activity. Under ischemia-reperfusion model conditions in the ipsilateral frontal cortex of rats, containing the penumbra region, we identified genes whose expression is altered by Semax and simultaneously under the control of circRNAs at 24 hours after the onset of middle cerebral artery occlusion. Thus, a possible role of non-coding RNAs in the mechanisms of Semax’s effect on the brain cell transcriptome under ischemic conditions was demonstrated.

Tumor hybrid cells (THCs) are considered key contributors to cancer progression due to their proliferative activity, immune evasion, and therapy resistance. In our previous study, we identified THCs associated with the risk of hematogenous metastasis and locoregional recurrence in non-small cell lung cancer (NSCLC). However, the molecular factors underlying this association remain unclear. The aim of the present study was to investigate the transcriptional profiles of THCs associated with metastasis and recurrence in NSCLC. The analysis included transcriptomic data from primary tumor cells obtained from 102 NSCLC patients from the open-access single-cell RNA sequencing atlas. The Seurat package was used to identify THCs and analyze their transcriptional profiles, while clusterProfiler was applied to assess functional enrichment of signaling pathways and biological processes. Metastasis-associated THCs exhibited differential expression of genes involved in epithelial-mesenchymal transition (EMT) and energy metabolism, whereas recurrence-associated THCs were enriched with glucose metabolism, EMT, and maintenance of a stem-like phenotype. These findings provide new insights into the transcriptional characteristics of THCs associated with NSCLC progression.