RESEARCH RESULTS IN BIOMEDICINE最新文献

{"title":"Interrelation of IL1B and IL6 genes polymorphism with blood eosinophilia and histological picture of polyps in patients with chronic polypous rhinosinusitis","authors":"O. Y. Mezentseva, V. S. Piskunov, A. Polonikov","doi":"10.18413/2658-6533-2021-7-4-0-3","DOIUrl":"https://doi.org/10.18413/2658-6533-2021-7-4-0-3","url":null,"abstract":"Background: The problem of chronic polyposis rhinosinusitis is one of the most common diseases in modern otorhinolaryngology with an etiopathogenesis that is not fully understood. A widely studied theory of nasal polyposis formation today is genetic. It is believed that some candidate genes, such as cytokine genes, can influence not only the onset of the disease itself, but also its clinical manifestations, such as blood eosinophilia and the histological structure of polyposis tissue, since this pathology is often accompanied by atopy with an increase in the level of eosinophils. The aim of the study: To study the associations of gene polymorphism IL1B (rs1143627) and IL6 (rs1800796) with blood eosinophilia and histological types of polyps in patients with chronic polypous rhinosinusitis. Materials and methods: An objective examination of racially and ethnically indistinguishable patients with nasal polyposis aged 18 to 60 years was carried out. The study involved 151 (37%) women and 257 (63%) men. A questionnaire was carried out with an emphasis on the socio-biological status of the patient, complaints, anamnesis of life and disease, data of clinical and laboratory examinations, features of the course of the disease. After venous blood was collected from the ulnar vein by standard phenol-chloroform extraction, DNA was isolated and then rs1143627 and rs1800796 genotyped. The odds ratio (OR) and 95% confidence interval (95% CI) were used to assess the presence of genotype associations; the correspondence of the distribution of genotype frequencies to the Hardy-Weinberg Оригинальная статья Original article Научные результаты биомедицинских исследований. 2021;7(4:363-374 Research Results in Biomedicine. 2021:7(4):363-374 365 equilibrium was judged by the p-level of significance. Results: An association of carriage of the G/G genotype (OR=0.31; 95 CI 0.10-0.92; p=0.037) of the IL1B gene (rs1143627) with a reduced probability of the formation of glandular polyps was revealed. No associations of polymorphic variants of the studied genes with blood eosinophilia were found. No functional effects of rs1143627 and rs1800796 in the tissues of the upper respiratory tract, nasal polyps and paranasal sinuses were found. The absence of the effect of rs1800796 on the expression of the IL6 gene was revealed. Conclusion: Thus, the revealed relationship of the G/G polymorphism of the IL1B gene (rs1143627) with a reduced likelihood of the formation of glandular polyps in patients with chronic polyposis rhinosinusitis may be evidence of the genetic causation of this disease, however, this hypothesis requires further study.","PeriodicalId":20921,"journal":{"name":"RESEARCH RESULTS IN BIOMEDICINE","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84882486","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Chromosome 18p deletion syndrome (18p-) in children: the value of cytogenetic and molecular cytogenetic diagnosis","authors":"S. Vorsanova, Y. Yurov, I. Demidova, V. S. Kravets, Alexey D. Kolotii, K. Vasin, I. V. Soloviev, I. Iourov","doi":"10.18413/2658-6533-2021-7-3-0-5","DOIUrl":"https://doi.org/10.18413/2658-6533-2021-7-3-0-5","url":null,"abstract":"Chromosome 18p deletion syndrome (18p-) is associated with a loss of chromosomal material of the short arm (partial monosomy); however, the whole short arm is lost in the majority of cases. The frequency of 18p- syndrome is 1:60000. The syndrome is cytogenetically and clinically heterogeneous. The clinical manifestations vary extremely from mild forms with congenital anomalies and developmental delays to severe brain malformations. Rare cases demonstrate epilepsy and autism spectrum disorders. The deletion breakpoints are also variable. Accordingly, the syndrome needs the analysis of large groups of diseased children by current genomic technologies. Aim of the study: The evaluation of cytogenetic and molecular- cytogenetic technologies for defining critical breakpoints and possible phenotype- genotype correlations. Results: Here, we describe our observations of 15 patients (9 boys and 6 girls) with 18p deletion syndrome, revealed in a large cohort of patients (n=8536). The mean age was 5.1 years; the sex ratio was in favor of boys (1.5:1) in contrast to the literature data. Critical breakpoints associated with this syndrome within the short arm of chromosome 18 were not revealed. It is possible that the clinical features of the syndrome are associated with many breakpoints in chromosome 18 short arm (p11.1->pter). The frequency of 18p- syndrome in children with intellectual disability, developmental delays, and congenital anomalies was 0.2%. The diagnostic aspects of this pathology and the value of molecular cytogenetic methods in studying the syndrome are discussed. Conclusion: We highlight personalized approach to diagnosis of the syndrome for correct genetic counseling for the improvement the life quality and establishing phenotype-karyotype correlations.","PeriodicalId":20921,"journal":{"name":"RESEARCH RESULTS IN BIOMEDICINE","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82899715","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction of hypertensive retinal changes in rats with Semax","authors":"Sergey S. Lugovskoy, S. S. Chernyaeva, A. Peresypkina, A. Pobeda, N. V. Solovev, K. Shchurovskaya, I. Iezhitsa","doi":"10.18413/2658-6533-2021-7-3-0-6","DOIUrl":"https://doi.org/10.18413/2658-6533-2021-7-3-0-6","url":null,"abstract":"Currently, there are no drugs for the specific treatment of hypertensive retinal changes. The main therapy is for the treatment of a systemic disease – hypertensive disease. Therefore, the search for ways of specific pharmacological correction of hypertensive retinal changes is of great interest. The aim of the study: To evaluate the correction possibility of retinal injuries with Semax in a rat model of hypertensive neuroretinopathy. Materials and methods: The model was performed by injection of N-nitro-L-arginine methyl ester (L-NAME) at a dose of 1.25 mg/100 g of rat mass within 28 days and a single increase in intraocular pressure (IOP) to 110 mmHg for 5 min. The retinoprotective effect of Semax at a dose of 7.2 μg/100 g of rat mass, in comparison with Picamilon at a dose of 3 mg/100 g of rat mass, was estimated by laser Doppler flowmetry (LDF) and electroretinography (ERG). Results: The use of Semax led to an increase in retinal perfusion by 62.7%, p < 0.05, in comparison with the group with the model, and by 9.9%, p < 0.05, in comparison with Picamilon; an increase in the b/a coefficient by 31.4% in comparison with the group with the model, p < 0.05, and by 14.6%, p < 0.05 in comparison with Picamilon. Conclusion: The neuroretinoprotective effect of Semax in correction of hypertensive retinal changes in rats may be due to the presence of neuroprotective, neurometabolic, antioxidant and endothelioprotective effects in Semax. Thus, Semax can be a promising agent in hypertensive neuroretinopathy treatment.","PeriodicalId":20921,"journal":{"name":"RESEARCH RESULTS IN BIOMEDICINE","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90215095","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"About the origin of the acrocentric part of non-acrocentric satellited chromosomes in humans","authors":"Mohammed Abdulazeez, Stefanie Kankel, T. Liehr","doi":"10.18413/2658-6533-2021-7-3-0-1","DOIUrl":"https://doi.org/10.18413/2658-6533-2021-7-3-0-1","url":null,"abstract":"Variants in size of the acrocentric short arms (acro-ps) are normally not reported and considered as chromosomal heteromorphisms (CHMs) without any influence on the carrier’s phenotype. However, if acro-ps are translocated to ends of A-chromosomes (i.e. human chromosomes 1-22 and X or Y), those rearrangements are studied in more detail. The aim of the study: Here we characterized 11 healthy carriers of a non-acrocentric satellited chromosomes der(A)t(A;acro)(pter or qter;p1?1.2) to determine the frequency of chromosome 15p and 22p in such rearrangements. Materials and methods: 11 carriers of one (10 cases) or two (1 case) der(A)t(A;acro) were identified during routine cytogenetic analyses. They were originally referred due to infertility or due to a mentally retarded child with otherwise abnormal karyotype. Here derivative chromosomes were studied by fluorescence in situ hybridization applying probes D15Z1 (specific for 15p11.2) and D22Z4 (specific for 22p11.2). As there are no DNA-sequences available for 13p11.2, 14p11.2 and 21p11.2 these regions could not be tested. Results: D15Z1 sequences were identified in 1 out of 12 derivatives der(A)t(A;acro). D22Z1 could not be detected in any of the 11 remainder derivatives. However, only 3 of the 12 der(A)t(A;acro) had acro-ps large enough to potentially comprise sub-band p11.2. Conclusion: In contrast to der(Y)t(Y;acro)(q12;p1?1.2), where in at least 65% of the cases the acro-p part contains D15Z1 sequences, here it could be shown that in der(A)t(A;acro) 15p involvement can be substantiated much less frequently. Also, in none of the two groups D22Z4-sequences were detected in acro-p-parts yet. Besides, breakpoint of acro-pparts in der(A)t(A;acro) seem to be in ~75% of the cases distal from p11.2.","PeriodicalId":20921,"journal":{"name":"RESEARCH RESULTS IN BIOMEDICINE","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83220955","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The spectrum of pharmacological activity of different groups of natural compounds of laurel leaves and the choice of the optimal extractant for the extraction of essential oil from them","authors":"Yulia E. Polousova Polousova, Dmitry I. Pisarev, O. Novikov, R. Abramovich, K. M. Sakanyan","doi":"10.18413/2658-6533-2021-7-3-0-7","DOIUrl":"https://doi.org/10.18413/2658-6533-2021-7-3-0-7","url":null,"abstract":"Laurel noble – Laurus nobilis L., a plant whose leaves are widely used in cooking and are used in folk medicine. L. nobilis L. leaves contain more than 80 volatile components, represented mainly by monocyclic monoterpenes. The identification of more and more new therapeutic properties of the plant testifies to its incompletely undisclosed therapeutic potential. However, despite the impressive therapeutic potential of the plant, it is not used in domestic scientific medicine. The aim of the study: To describe the spectrum of types of pharmacological activity of L. nobilis L. and selection of the optimal extractant for the extraction of essential oil from the leaves of the object under study. Materials and methods: Laurel leaves were used as the test material. The essential oil from the leaves was obtained by extraction with freons, which are methoxynonafluorobutane and fluoroketone. The extractant for comparison was n-hexane. The method of studying essential oils was chromatography- mass spectrometry. Chromatography was performed on a gas chromatograph – mass spectrometer – GCMS-QP2010 Ultra, Shimadzu, Japan. Ionization is carried out in the electronic shock mode, detection by the total ionic current (SCAN) in the programmed temperature mode. Results: According to the literature, the essential oil of L. nobilis L. leaves have a pronounced antibacterial, antioxidant and antiinflammatory effect. Polyphenolic compounds of L. nobilis L. leaves are represented by flavonoids, derivatives of kaempferol and quercetin. It is believed that flavonoids are responsible for hypoglycemic, insular protective, antioxidant effects. The results of chromatography showed that the essential oil is represented mainly by 12 compounds, the dominant of which were 1.8-cineole (eucalyptol), alpha-terpenyl acetate and methyleugenol. During chromatography, it was also found that the optimal extractant is methoxynonafluorobutane, which extracts terpenoids with the highest yield. The prospects of using freons as agents for obtaining essential oil from laurel leaves have been shown. The composition of the essential oil isolated by freons from the leaves of laurel was determined by the method of gas chromatography-mass spectrometry. The results of chromatography showed that in the obtained freon extracts, 1.8-cineole (eucalyptol), alpha-terpenyl acetate and methyleugenol were dominant, which is close in composition to the native essential oil, according to literature data. Conclusion: The prospects of using freons as agents for extracting essential oil from L. nobilis L. leaves were shown. During chromatography, it was found that the optimal extractant is methoxynonafluorobutane, which extracts volatile components with the highest yield compared to fluoroketone and n-hexane; in addition, methoxyfluorobutane is non-toxic compared to n-hexane.","PeriodicalId":20921,"journal":{"name":"RESEARCH RESULTS IN BIOMEDICINE","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74495996","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Integrated in-depth bioinformatic analysis suggests RELCH/KIAA1468, LINC02341, and AKAP11 as candidate genes for ages at menarche and menopause","authors":"V. Dvornyk","doi":"10.18413/2658-6533-2021-7-3-0-2","DOIUrl":"https://doi.org/10.18413/2658-6533-2021-7-3-0-2","url":null,"abstract":"Polymorphisms of the TNFRSF11A and TNFSF11 genes were reported for their association with age at menarche (AAM) and age at natural menopause (ANM). However, the biological mechanisms underlying this association remain largely unclear. The aim of the study: This study was to determine biological processes backing the observed genetic associations. Materials and methods: Fortyfour SNPs were analyzed using in silico approach and ten publicly available online databases and tools. Results: TNFRSF11A and TNFSF11 are highly pleiotropic genes that play a role in many metabolic processes. However, among that variety, lipid metabolism and cell survival and apoptosis seem the most biologically plausible mechanisms, through which these genes contribute to AAM and ANM. The analysis identified several mechanisms underlying the previously determined association of the TNFRSF11A and TNFSF11 genes with AAM and ANM and suggested RELCH/KIAA1468, LINC02341, and AKAP11 as new candidate genes for the traits.","PeriodicalId":20921,"journal":{"name":"RESEARCH RESULTS IN BIOMEDICINE","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88192784","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The relationship between polymorphism rs12449964 of the phosphatidylethanolamine- N-methyltransferase gene and hypertriglyceridemia and obesity in patients with type 2 diabetes","authors":"I. Azarova","doi":"10.18413/2658-6533-2021-7-3-0-4","DOIUrl":"https://doi.org/10.18413/2658-6533-2021-7-3-0-4","url":null,"abstract":"Phosphatidylethanolamine N-methyltransferase (PEMT) is the enzyme of lipid metabolism that catalyzes the conversion of phosphatidylethanolamine to phosphatidylcholine in a series of three methylation reactions. Low activity of the enzyme can increase the availability of phosphatidic acid for triacylglycerol synthesis and thus favor obesity, one of the most important risk factors for type 2 diabetes (T2D). The aim of the study: To study the relationship of the rs12449964 (C>T) in the regulatory region of the PEMT (phosphatidylethanolamine-N-methyltransferase) gene with blood plasma triglycerides, as well as the risk of obesity and T2D in population of Central Russia. Materials and methods: The study included 2060 unrelated individuals of Slavic origin, including 1024 patients with T2D and 1036 healthy volunteers. Genotyping of PEMT gene polymorphism (C>T, rs12449964) was performed by laser desorption / ionization time-of-flight mass spectrometry using the MassArray Analyzer 4 platform (Agena Bioscience). SNPStats online program was used for statistical analysis of the obtained data. Results: Linear regression analysis did not reveal an association of rs12449964 of the PEMT gene with a risk of developing T2D regardless of body mass index (P>0,05). However, the T/T genotype of the studied SNP is associated with an increased risk of obesity in patients with type 2 diabetes (OR 1.66; 95% CI 1.11-2.46; P = 0.011, adjusted for sex and age, recessive model). In addition, carriage of the T/T genotype was associated with a higher level of triacylglycerols in the blood plasma of patients with T2D, both in the presence of obesity and without it (P<0.05). According to GTEx Portal, the rs12449964T allele is associated with decreased PEMT expression in various tissues. Conclusion: The study revealed for the first time the association of rs12449964 of the PEMT gene with hypertriglyceridemia and an increased risk of obesity in patients with T2D, which may be due to the low transcriptional activity of the phosphatidylethanolamine- N-methyltransferase gene in carriers of the alternative allele of the studied SNP.","PeriodicalId":20921,"journal":{"name":"RESEARCH RESULTS IN BIOMEDICINE","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83365827","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The contribution of the endocrine system to the development of osteoporosis in the elderly and senile (review)","authors":"S. Bulgakova, D. P. Kurmaev, M. Silyutina, E. Voronina, T. E. Nichik","doi":"10.18413/2658-6533-2021-7-3-0-9","DOIUrl":"https://doi.org/10.18413/2658-6533-2021-7-3-0-9","url":null,"abstract":"Osteoporosis is increasingly found in the elderly and senile, maintaining its enormous medical and social significance. The effect of hormones on bone metabolism is beyond doubt. However, currently the data on the effect of sex hormones on bone tissue prevails. As for the other hormones, sometimes, there are conflicting opinions. The aim of the study: Based on published data, to study the contribution of the endocrine system to the development of osteoporosis in the elderly. Materials and methods: Literature data was analyzed using the following search words: osteoporosis, bone mineral density, FSH, estrogens, testosterone, cortisol, vitamin D, IGF1 for 1998-2020 in computer databases PubMed, Scopus, Medical- Science, Elibrary, Web of Science, Ceeol. Results: Analysis of the literature showed that the increase of levels of thyroid stimulating hormone (TSH) plays an osteoprotective role; the decrease of levels of estrogen, testosterone, insulin-like growth factor 1 (IGF1) and vitamin D, as well as the increase in the levels of cortisol, parathyroid hormone and follicle-stimulating hormone (FSH) contribute to bone loss in the elderly and senile. In addition, the FSH receptor (FSHR) genotype AA rs6166 is associated with low bone mineral density, regardless of estrogen level. A polyclonal antibody with an FSHR-binding sequence against mouse β-subunit of FSH is likely to be an effective tool for reducing bone loss in mice subjected to ovariectomy. Conclusion: A comprehensive assessment of the hormonal profile in the elderly and senile is needed to identify the causes of osteoporosis and the formation of an individual program of medical diagnostic and rehabilitation measures. Currently, there are all prerequisites for the development of new diagnostic and therapeutic interventions for the correction of low bone density.","PeriodicalId":20921,"journal":{"name":"RESEARCH RESULTS IN BIOMEDICINE","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74865362","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Senile mouth as a component of geriatric status","authors":"V. A. Borozentseva, V. Y. Borozentsev, I. P. Pochitaeva, O. Rozhdestvenskaya, T. V. Evdokimova","doi":"10.18413/2658-6533-2021-7-3-0-8","DOIUrl":"https://doi.org/10.18413/2658-6533-2021-7-3-0-8","url":null,"abstract":"According to the literature, there is a high prevalence of the syndrome of senile asthenia (frailty) among the elderly. This condition is associated with a number of physical, functional and biochemical changes in the body. The interrelationships of the senile mouth with the malnutrition syndrome are known, the associations with other geriatric syndromes are insufficiently studied. At the same time, early diagnosis of conditions and diseases as the risk factors for the development of senile mouth is very important. The aim of the study: To study the role of the senile mouth in the formation of geriatric status. Materials and methods: In total, 570 elderly and senile people were included in the study (58 persons without adentia, 512 persons with adentia. The age of the patients ranged from 65 to 84 years. The groups of patients without adentia and with adentia were comparable in age and sex composition. Results: The study showed that the senile mouth is associated with the loss of 11 or more teeth in any variant of adentia, and with a smaller number of lost teeth – with the 1st and 4th classes of adentia according to E. Kennedy, while the ethiological causes of adentia do not have a significance in increasing the risk for developing of senile mouth. Cardiovascular pathology, type 2 diabetes mellitus and diseases of the musculoskeletal system increase the risk of developing the progression of the senile mouth. The senile mouth is associated with such geriatric syndromes as the syndrome of malnutrition and the risk of its development, dina/ sarcopenia, falls syndrome, depression, cognitive disorders and uncorrected sensory deficits. Conclusion: Senile mouth take place in the processes of formation of geriatric status in elderly patients. It is necessary to investigate the state of the dentition according to E. Kennedy. The patients with complete adentia, as well as with grades 1, 4 of adentia and its mixed forms are the groups of increased risk of frailty. It is also advisable to conduct a comprehensive geriatric assessment with targeted correction of the identified geriatric syndromes in people with senile mouth before and after dental intervention.","PeriodicalId":20921,"journal":{"name":"RESEARCH RESULTS IN BIOMEDICINE","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76071667","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The association study of polymorphic variants of hypothalamic-pituitary-adrenal system genes (AVPR1B, OXTR) and aggressive behavior manifestation: a focus on social environment","authors":"A. Kazantseva, J. D. Davydova, R. Enikeeva, R. Valinurov, A. Gareeva, N. N. Khusnutdinova, E. Khusnutdinova","doi":"10.18413/2658-6533-2021-7-3-0-3","DOIUrl":"https://doi.org/10.18413/2658-6533-2021-7-3-0-3","url":null,"abstract":"Background: Aggressive behavior (AB) represents an important social problem, which results in significant costs for the society. A significant role in developing aggression is suggested to be mediated by molecular mechanisms related to the functioning of oxytocin (OXTR) and arginine vasopressin receptor (AVPR1B) genes involved in the regulation of social behavior. On the other hand, a specificity of environmental factors affecting an individual at various stages of development may modulate the molecular processes, especially at gene expression level, thus affecting human’s ability to self-control and resulting in AB manifestation. The aim of the study: Considering a multifactorial nature of developing aggression, the present study is aimed to estimate both the genetic- and haplotype-based effects of the OXTR and AVPR1B genes and gene-by-environment interactions in developing AB. Materials and methods: The genotyping of the OXTR (rs2228485, rs53576) and AVPR1B (rs33911258) gene variants was conducted via PCR with fluorescent detection in 189 criminal offenders (7% women) from the Republic of Bashkortostan, who committed murders, and the control group (N=254, 12% women) corresponding to the group of criminal offenders by ethnicity and age. Statistical analysis was performed via logistic regression with correction for multiple comparisons (PLINK v.1.09). Results: As a result of statistical analysis the association of rs2228485 A-allele and AG haplotype (rs2228485 and rs53576) in the OXTR gene with an enhanced risk for developing AB was observed. In addition, we demonstrated a modulating effect of such environmental factors as the presence of severe somatic diseases, alcohol addiction, fa milial history of psychopathologies, income and education level. Moreover, the effect of rs33911258 G-allele in the AVPR1B gene on AB was observed. Conclusion: The data obtained evidence that the examined variants in the AVPR1B and OXTR genes in combination with specific environmental factors may affect neuronal systems functioning, thus resulting in the manifestation of antisocial behavior.","PeriodicalId":20921,"journal":{"name":"RESEARCH RESULTS IN BIOMEDICINE","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81927610","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}