Yakut Population Research Articles

The association between the serotonin receptor gene and anxiety as a factor in human adaptation to extreme conditions in Yakutia

This study investigates the genetic predisposition to anxiety and its impact on adaptation to the extreme conditions of the North-East region of Russia, particularly concerning the Yakut population. Special attention was given to the polymorphism of the serotonin receptor gene HTR2A (rs6311) and its association with levels of situational anxiety (SA) and personal anxiety (PA). The study involved 261 Yakuts (n = 261) who are permanently residing in Yakutia, do not exhibit any psychoneurological symptoms, and provided voluntary informed consent. Anxiety level was assessed using the Spielberger-Khanin scale. Genotyping was performed using PCR and RFLP, followed by detection through electrophoresis in an agarose gel. The findings indicate that the sample was characterized by a predominance of individuals with moderate levels of SA (60.9 %) and PA (57.5 %). However, in the group of women, individuals exhibited a high level of PA (53.8 %). The highest percentage of agreement in anxiety levels (69.7 %) was observed among individuals with moderate SA and PA. Given that the serotonergic system is involved in regulating behavior, emotions, and various physiological functions, and plays a crucial role in mitigating the negative behavioral consequences of stressors, a study on the polymorphism of the serotonin receptor gene HTR2A (rs6311) was conducted. The analysis of the distribution characteristics of the genotypes and alleles associated with the polymorphism of the serotonin receptor gene HTR2A (rs6311) in the Yakut population revealed a significant predominance of carriers with the homozygous genotype GG (60.2 %), and the G allele (0.782). Futhermore, when examining the distribution of allelic variants of the studied polymorphism based on the level and type of anxiety, it was observed that the AG and GG genotypes were more prevalent among individuals with high PA and low SA. These results confirm the significance of genetic factors in adaptation to the extreme conditions of the North.

Associations of the AVPR1A RS1 Microsatellite Locus with the Level of Hormones of the Anterior Pituitary Gland and Personality Traits.

The arginine vasopressin receptor gene (AVPR1A) is one of the genes affecting mental processes. The aim of this study was to search for associations of microsatellite locus RS1, which is related to the AVPR1A expression level, with the level of hormones of the anterior pituitary gland and personality traits. The study sample included Yakut men aged 18-26years (n = 121). The analysis of RS1 locus was carried out using the PCR method and sequencing of the primary nucleotide sequence. Serum hormonal levels of thyroid-stimulating hormone (TSH), follicle-stimulating hormone (FSH), luteinizing hormone (LH) and prolactin were determined by the time-resolved fluorescence immunoassay (DELFIA), plasma adrenocorticotropic hormone (ACTH) levels were determined by enzyme-linked immunosorbent assay (ELISA). In the Yakut population "short" (S) alleles of the AVPR1A RS1 locus containing ≤ 10 repeats (63%) and the corresponding SS genotypes (44.6%) were more frequent, while individuals with "long" (LL) and "heterozygous" (SL) genotypes accounted for 18.2 and 37.2%, respectively. The range of concentrations of ACTH and TSH in the group of SS genotype carriers was significantly lower than that observed in the group of LL genotype carriers (p = 0.042 and p = 0.048, respectively); the LH level was significantly higher (p = 0.029). The trend towards higher neuroticism in SS genotype carriers compared to the individuals with LL genotypes (p = 0.05) is revealed. The results obtained indicate the modulating effect of genetic variants of the AVPR1A gene on the level of anterior pituitary hormones, which could slightly affect the level of neuroticism in humans.

Mutation rate estimates for Y chromosomal STRs in the Yakut population

Mutation rate estimates for Y chromosomal STRs in the Yakut population

High Frequency of Ancestral Haplotype A of Fatty Acid Desaturase Genes in the Yakut Population.

Aims: The purpose of this study was to study the correlation of the body weight of Yakuts with the variability of polymorphisms rs174537, rs174546 and rs3834458 of the FADS1 - FADS2 region to identify the connection of certain genotypes with obesity. Materials and Methods: For genotyping, classical methods of PCR-RFLP analysis were used. A sample of 446 DNA samples from Yakut volunteers without chronic diseases (143 women and 303 men) was studied. Results: The predominance of the ancestral alleles of SNPs rs174537, rs174546 and rs3834458 was established in all of our studied groups. Analysis of the odds ratio of allele and genotype frequencies in patients with normal BMI, high BMI and obesity did not show statistically significant values. We did not find an association between rs174537, rs174546 and rs3834458 with obesity, but we did not take into account the diet of the subjects, which may have had a stronger effect on BMI. Analysis of pairwise linkage disequilibrium and assessment of haplotypes for 3 SNPs in the FADS1 and FADS2 genes showed strong linkage of all three SNPs to each other (r2 = 0.93-0.96). Conclusions: According to the result of genotyping of SNP rs174537, the frequency of haplotype A in the Yakut population was 0.76 and, in comparison with other world data, is quite high. Which in turn is associated with lower conversion of short-chain polyunsaturated fatty acid to long-chain polyunsaturated fatty acid. Accordingly, a shift in nutrition towards more plant foods can negatively impact the health of the Yakuts. At the moment, the exact dosage of polyunsaturated fatty acids (PUFAs) for humans has not yet been established, but judging by the fact that all recommendations are mainly made on the basis of European populations, in connection with the results of the study, the Yakuts have a particularly high need for PUFAs.

Comparative analysis of the association of polymorphism rs9939609 of the <i>FTO</i> gene in patients with type 2 diabetes mellitus in the Tatar and Yakut populations

Comparative analysis of the association of polymorphism rs9939609 of the <i>FTO</i> gene in patients with type 2 diabetes mellitus in the Tatar and Yakut populations

Y-chromosomal STRs Mutation Rates in the Yakut Population

Y-chromosomal STRs Mutation Rates in the Yakut Population

The Association of Leptin Receptor Gene Q223R Polymorphism with Obesity in the Yakut Population

Background: This study aimed to compare the frequencies of alleles and genotypes of the LEPR Q223R SNP in the Yakut population in samples with normal BMI and obesity and compare the data obtained with other populations worldwide. Methods and Results: The study included 336 DNA samples from volunteers of Yakut nationality (117 women and 219 men) without chronic diseases, whose average age was 47.4±0.06 years. All volunteers were divided into two groups: Group 1 (n=151) with normal BMI and Group 2 (n=185) with obesity. Group 2 was divided into two subgroups: Group 2A (n=156) with BMI ≥30 kg/m2 plus OA and Group 2B (n=29) with BMI ≥30 kg/m2 and without abdominal obesity.The study of the LEPR Q223R SNP was performed using the PCR-RFLP method. The frequency of the G allele of the LEPR Q223R SNP was 79.5% in Group 1 and 82.7% in Group 2. Analysis showed a high frequency of genotype GG: 64.2% and 69.7% in Group 1 and Group 2, respectively. The frequency of the GA genotype was 30.5% in Group 1 and 25.9% in Group 2.The frequency of alleles and genotypes does not differ in the sample of Yakuts with normal BMI and those with obesity. There are also no differences in the frequency of alleles and genotypes based on gender and the presence of abdominal obesity.The high frequency of the G allele in the Yakut population is close to that observed in East Asian populations (86.9%). There was no statistical difference in allele frequencies in comparison with the populations of Han Chinese from Beijing, Japanese from Tokyo, and Vietnamese from Ho Chi Minh City. In European, African, American, and South Asian populations, the G allele occurs with a frequency of 43.7% to 59.2%. Conclusion: The LEPR Q223R SNP does not affect BMI in the Yakut population. In this study, Q223R allele frequencies were like allele frequencies in East Asian populations but not in Caucasians, reflecting racial diversity in the allele distribution of this polymorphism.

Опыт применения генно-инженерных биологических препаратов при тяжелой бронхиальной астме в Республике Саха (Якутия)

In the Republic of Sakha (Yakutia), from 2001 to 2020, the incidence of asthma is increasing from 4.1 per 1000 population to 12.5 per 1000 population. Considering that currently one of the most effective modern methods of treating severe asthma is genetic engineering biological therapy, research on biologically active medications, as well as the lack of research on this problem in the Yakut population, our work seems relevant. The purpose of this study was to evaluate the effectiveness of treatment with genetic engineering biological drugs (GEBD) in patients with severe asthma in the Yakut population. The study included 17 patients suffering from severe asthma. In 5 patients with severe asthma, the effectiveness of the following GEBD was assessed: anti IL-4, IL-13 drug, in 6 patients – anti IL-5 drug, in 6 patients – anti IgE drug. The effectiveness of treatment was assessed using the ACQ-5 symptom control test, the number of exacerbations over the previous 12 months of asthma therapy, IgE levels, the absolute number of eosinophils, indicators of external respiratory function, and the need of patients for additional asthma therapy. Before initiation, 8 (47.10%) patients had exacerbations and sought medical help; 2 patients were hospitalized in the pulmonology department; after 6 and 12 months, no exacerbations or hospitalizations in specialized hospitals were registered. When using a GEBD for 12 months, the need for inhaled corticosteroids decreased in micrograms/day. Thus, treatment of severe asthma in the Yakut population with GEBD makes it possible to achieve control over its symptoms, reduce the risk of severe exacerbations and the number of hospitalizations, and prevent side effects from high doses of standard therapy.

Ala54Thr polymorphism of the fatty acid transporter gene (FABP2) in patients with type 2 diabetes mellitus in Yakutia

To study the contribution of the Ala54Thr genetic polymorphism of the FABP2 gene to the risk of developing type 2 diabetes mellitus among the Yakut population. The study included participants who filled out a questionnaire approved by the Local Committee on Biomedical Ethics at the Yakut Science Centre of complex medical problems and voluntarily signed an informed consent to conduct a genetic study. The sample consisted of 181 patients of the endocrinological department of the Republican Hospital No. 2 of the State Budgetary Institution "Center for Emergency Medical Care" with a diagnosis of type 2 diabetes. The comparison group was a sample of 336 volunteers without chronic diseases of the Yakut ethnicity. For molecular genetic analysis, genomic DNA samples were isolated from whole blood. Single nucleotide polymorphism was determined by polymerase chain reaction followed by analysis of restriction fragment length polymorphism. Study showed that polymorphism in the FABP2 gene has an impact on anthropometric parameters and blood biochemical parameters. The risk of developing type 2 diabetes was 1.7 times higher in carriers of the Ala/Thr genotype (odds ratio 1.755, 95% confidence interval - 1.212-2.542; p<0.005) compared with carriers of other genotypes. When comparing the average biochemical values, the levels of aspartate transaminase, alanine aminotransferase, glucose and total bilirubin in homozygous carriers of the Ala/Ala genotype were significantly lower than in carriers of other genotypes (р<0.05). Carriers of the heterozygous Ala/Thr genotype (р<0.05) had the highest level in terms of aspartate aminotransferase and alanine aminotransferase. The highest indicator of the average level of HbA1c and an indicator of total bilirubin were carriers of the Thr/Thr genotype (р<0.05). The high prevalence of the negative Thr allele among the Yakut population is probably associated with living conditions in the North, as well as in the traditional type of diet.

The variability of PNPLA3 gene as a potential marker of cold adaptation in Yakuts

ABSTRACT Nonalcoholic fatty liver disease (NAFLD) is one of the most common chronic liver diseases. It has been reported that specific variants of patatin-like phospholipase domain-containing 3 (PNPLA3) gene, notably SNPs rs738409 and rs2294918 are associated with high risks of liver disease. PNPLA3 rs738409 polymorphism is the main determinant of fatty liver and affects development and progression of NAFLD. rs2294918 is another SNP localised in PNPLA3 gene, it is associated with reduced expression of the PNPLA3 protein, lowering the effect of the rs738409:G variant on predisposition to steatosis and liver damage. The frequencies of alleles, genotypes, haplotypes and diplotypes (combinations of genotypes at two loci) of polymorphic variants of the PNPLA3 gene (rs2294918 and rs738409) were studied in the cohort of Yakuts (n = 150) living in the Republic of Sakha (Yakutia). Genotyping of PNPLA3 (rs738409 and rs2294918) was performed by PCR-PDRF method. The single nucleotide polymorphism rs738409 (I148M) of the PNPLA3 gene in the Yakut population is characterised by a high frequency of the risk allele G (72%). Analysis of the distribution frequency of the rs2294918 polymorphism genotypes showed that the allele G was predominant in 89.3% of individuals of the studied group of Yakuts. In this study, we identified two major diplotypes [GG][GG] and [CG][GG]. The high frequency of the mutant rs738409: G variant in Yakuts may be an adaptation of the organism to low temperatures. The study of the adiponutringene may be an important key to understanding the mechanisms of adaptation to low temperatures and metabolic processes in the indigenous population of the North.

Endogenous and exogenous risk factors affecting the incidence of breast cancer in the population of Yakutia

The purpose of the study: to analyze the breast cancer incidence and breast cancer risk factors for the population of the Republic of Sakha (Yakutia) in 2011-2020. Material and Methods. The incidence of breast cancer in the population of Yakutia was analyzed using the data collected from population-based cancer registries of the Russian cancer statistics covering the period 2011-2020. The analysis of breast cancer risk factors was carried out using the data from systematic reviews published over the past 5 years (2018-2022). Results. The age-standardized incidence rates of breast cancer among the indigenous population of the Republic of Sakha (Yakutia) were lower than those in other Siberian ethnic groups and the Slavic population, amounting to 12.7 per 100,000 population. The rise in the breast cancer incidence rates in the region for 2011-2020 was associated with the aging of the population, since the trend in the population growth was not observed in the analysis of age-standardized rates. Conclusion. The breast cancer incidence rates among the indigenous population of the Republic of Sakha (Yakutia) are significantly lower compared to those observed in other ethnic groups living in Siberia. The rise in the breast cancer incidence rates in Yakutia is related to the aging of the population. The low age-standardized breast cancer incidence rates may be explained by a low consumption of hormonal agents and natural reproductive behavior. The search for ethno-specific mutations associated with breast cancer in the Yakut population as endogenous risk factors is of great importance. Further studies are required to elucidate the role of North-adaptive genetic mutations in the development of breast cancer. The assessment of the role of natural polyphenolic compounds, the content of which is high in wild berries (historically, a significant proportion of the food consumed by indigenous people), as a protective factor, is promising.

Origins of SOPH syndrome: A study of 93 Yakut patients with review of C-terminal phenotype.

Since the first report of SOPH syndrome among the Yakut population in 2010, new clinical data of SOPH-like conditions continue to appear. We expand the phenotypic spectrum of SOPH syndrome and perform a comparative analysis of Yakut SOPH patients' clinical data with SOPH-like conditions reported in the world scientific literature to form a foundation for NBAS pathogenesis discussion. Clinical data from the genetic records of 93 patients with SOPH syndrome and global survey data on patients with pathogenic variants of the C-terminal in the NBAS gene were collected. A detailed phenotype description of patients is presented with a total number of 111 individuals. Underweight below the fifth centile and prone to delayed bone age in Yakut SOPH patients are retrospectively observed. We outline the short stature with optic atrophy as the leading phenotyping trait for C-terminal NBAS patients. The pathophysiology and patients management of SOPH-like conditions are discussed.

Феногеногеография популяций сосны обыкновенной Якутии и Приамурья

Abstract. To preserve biological diversity, it is necessary to determine the genetic structure of species populations, because this gives the most complete picture of the manifestation of polymorphism and makes it possible to detect genetically and phenotypically distinct subspecies. The information obtained will help determine the optimal habitat and protection conditions for endangered and farmed species. The purpose of research is to conduct an allozyme analysis of 10 populations of P. sylvestris L. 2 of the physiographic countries of Yakutia and the Amur region. Results. An allozyme analysis revealed less polymorphism and the most drastic differentiation of the Amur region populations (at the level of geographic race) from Yakutia populations, subdivided from each other at the level of geographical populations. Significant differences are shown between the populations of Yakutia and Amur Region according to the distances of Mahalanobis, calculated according to 19 signs of cones. A positive linear relationship was obtained between the distances of Mahalanobis (D2) and the genetic distances of Ney (DN78) (R2 = 0.4159). Scientific novelty. A dominant role in the origin of the Yakut populations of P. sylvestris of three Siberian group-gradual fellings (GGF) - Tynda, Romanovka, Irkutsk and a decrease in the genetic similarity of the GGF as they move away from Yakutia were found.

ПОЛИМОРФИЗМЫ ГЕНОВ NOS3 И CYBA В РАЗВИТИИ ЦИРРОЗА ПЕЧЕНИ У БОЛЬНЫХ ХРОНИЧЕСКИМ ВИРУСНЫМ ГЕПАТИТОМ В В ЯКУТСКОЙ ПОПУЛЯЦИИ

Chronic viral hepatitis B is a significant public health problem. Hepatitis virus carrier factors affect the course of chronic hepatitis B and odds of progression to liver cirrhosis. So, the research for the early development genetic predictors of complications of chronic hepatitis B is relevant. NOS3 and CYBA genes can act as predictor genes for early fibrotic processes in the liver. Researches confirm the role of oxidative stress and the mechanisms of cellular aging in the development of liver fibrosis. The purpose of this study is to identify the relationship between the carriage of polymorphisms of the NOS3 and CYBA genes and the development of liver fibrosis in patients with chronic viral hepatitis B in the Yakut population. Molecular genetic study of SNPs rs1799983 and rs1801131 of the NOS3 gene, rs4673 of the CYBA gene was carried out on 417 people. The collection of representative material was carried out on the basis of the Infectious Diseases Department of the Yakut Republican Clinical Hospital and the NEFU Clinic. As a result of a genetic study, it was found that in carriers of the mutant allele for the rs1799983 polymorphism of the NOS3 gene, the probability of developing liver cirrhosis is 1.81 times higher (0.176–0.098, CI 95%,), in carriers of the rs4673 mutant allele of the CYBA gene, the probability of developing liver cirrhosis is higher by 1.9 times (0.211–0.111, CI 95%), in carriers of the mutant allele for the rs2070744 polymorphism of the NOS3 gene, the probability of developing liver cirrhosis is 2.03 times higher (0.181–0.089, CI 95%). Thus, the obtained results indicate the need for additional studies of these genes, since they can be predictors of the development of liver cirrhosis in patients with chronic viral hepatitis B in the Yakut population.

«ОПРЕДЕЛЕННАЯ» НАСЛЕДСТВЕННАЯ СЕМЕЙНАЯ ГИПЕРХОЛЕСТЕРИНЕМИЯ В ЯКУТИИ

Cardiovascular diseases occupy a leading position in the structure of mortality in most countries of the world, including Russia. The World Health Organization predicts further increases in cardiovascular morbidity and mortality in both developed and developing countries due to population aging and lifestyle patterns. Among the causes of cardiovascular mortality, IHD ranks first, followed by cerebrovascular disease, the main cause of the occurrence and development of which is atherosclerosis of the arteries, caused by a violation of lipid metabolism. The article discusses the role of the genetic factor in the formation of familial hypercholesterolemia and presents the first clinical cases with the results of molecular genetic confirmation of the low-density lipoprotein receptor gene mutation in patients of the Lipid Cabinet, Republic’s Clinical Hospital No. 3 with a diagnosis of “Definite” familial hypercholesterolemia. Despite the unconditional need for early detection of familial hypercholesterolemia for the primary prevention of atherosclerotic cardiovascular diseases, it should be noted that patients have low adherence to lipid-lowering therapy and low interest of the index patient in conducting cascade screening. Comparison of genetic differences in FH in the Yakut population between different ethnic groups requires further research.

О современных факторах идентичности якутов на рубеже ХХ–ХХI вв.

In the conditions of the historically established ethnic diversity in the Republic of Sakha (Yakutia), the complex development of market relations and the strengthening of the role of the ethnic factor, the problems of ethno-social adaptation of the indigenous population arises. The purpose of the article is to study the structure of a person's self-identification and to research various forms of identity such as ethno-cultural, linguistic and ethnic. One of the main sources for studying the problems of ethnicity was both various statistical materials, data from an ethno-sociological survey, and field ethnographic materials obtained by the author of the article in the course of expeditionary and stationary work in the uluses of the republic over the last quarter of the XX century – the beginning of the XXI century. When writing the work, the author applied both methods of field research in order to collect initial material, as well as theoretical and methodological ones. The article concludes that if there is a problem with the functioning of the Yakut language and its loss by a part of the urban Yakut population, it does not lead to the loss of Yakut identity. On the contrary, partly the loss of their native language by people of Yakut nationality, as it turned out, leads to the strengthening of their ethno-cultural identity. The dynamic of the number of Yakuts shows that the ethnic factor plays an important role in the identification of a person. The results of the work confirm the thesis that ethnicity, compensating for the weakening of civic identity, becomes a defining stratifying category, acquiring the ethnopolitical rank. In general, despite the influence of various factors, the materials of ethno-sociological studies in Yakutia showed a high degree of manifestation of both ethnic and ethno-cultural identity, and partly linguistic.

РОЛЬ ПОЛИМОРФИЗМОВ ГЕНОВ NOS3 И CYBA В ФОРМИРОВАНИИ ОСЛОЖНЕНИЙ ХРОНИЧЕСКОГО ВИРУСНОГО ГЕПАТИТА В Название объекта Название объекта в переводе ФИО автора / список авторов Место работы автора ORCID Ключевые слова Аннотация

In the Republic of Sakha (Yakutia), persistently high incidence rates of CVH remain, as well as mortality rates from complications of liver cirrhosis (LC), as the most common complication. It seems relevant to search for genetic predictors of early development of severe complications in CVH patients in the Yakut population. They can be polymorphic variants of the genes for endothelial dysfunction and oxidative stress NOS3 and CYBA. The collection of representative material was carried out on the basis of the Infectious Diseases Department of the State Budgetary Institution of the Republic of Sakha (Yakutia) of the Yakut Republican Clinical Hospital. In total, 47 DNA samples of patients with chronic viral hepatitis В and liver cirrhosis in its outcome, hospitalized in the Infectious Diseases Department from September 2020 to June 2021, were studied. The control group consisted of patients not infected with viral hepatitis, as well as without pathology of the hemostasis system. The experimental part of the study was carried out by real-time PCR with the melting of hybridization products with a fluorescent label, followed by analysis of the RealBest-Genetics melting curves. As a result of the PCR-RFLP analysis of the rs1799983 polymorphism of the NOS3 gene among patients with chronic viral hepatitis, the T allele frequency was 0.09, and the G allele frequency was 0.91. The frequency of the C allele of the rs2070744 polymorphism of the NOS3 gene was 0.05, the frequency of the T allele was 0.95. The frequency of occurrence of the major allele C of the rs4673 polymorphism of the CYBA gene was 0.78, the minor allele T was 0.22. The relationship between the carriage of polymorphisms of these genes and the disease was not found. However, it was found that carriers of the mutant allele for the rs1799983 polymorphism of the NOS3 gene were 1.81 times more likely to develop liver cirrhosis (95 % CI, odds in the groups 0.176–0.098), carriers of the mutant allele for the rs4673 polymorphism of the CYBA gene were more likely to develop cirrhosis liver cirrhosis is 1.9 times higher (95 % CI, odds in groups 0.211–0.111), in carriers of the mutant allele for the rs2070744 polymorphism of the NOS3 gene, the probability of developing liver cirrhosis is 2.03 times higher (95 % CI, odds in groups 0.181–0.089 ). In carriers of the mutant allele for the rs4673 polymorphism of the CYBA gene, shortening of PT and APTT (17.79 ± 10.26 and 35.13 ± 7.82 sec) is observed, which may indicate a greater tendency of this group to hypercoagulability. In carriers of the mutant allele for the rs2070744 polymorphism of the NOS3 gene, shortening of PT and APTT (11.56 ± 0.99 and 30.12 ± 4.45 sec) is observed, which may also indicate a greater tendency of this group to hypercoagulability.

Analysis of the Association of 5-Hydroxytryptamine Receptor 2A Gene Variants in Nicotine Addiction in the Yakut Population

The aim of this study was to investigate the relationship between the HTR2A 1438A/G (rs6311) SNP and the risk of nicotine addiction in Yakuts. Methods and Results: A total of 292 people of Yakut nationality were tested (77 women and 215 men). Two groups of examined persons were formed: smokers (n=141) and non-smokers (NS, n=151). To determine the association of the studied SNP with the degree of smoking, the smoker group was divided into two subgroups: Heavy smokers (HS) and Light smokers (LS). Subjects who were smokers were classified based on their consumption of cigarettes per day (cpd), as follows: LS (n=10), those who consumed between 1 and 10 cpd, and HS (n=131), those who consumed ≥20 cpd. The study of the HTR2A 1438A/G (rs6311) SNP was performed by PCR and RFLP analysis. The A allele of the HTR2A 1438A/G (rs6311) SNP was associated with more of a risk for the HS group than the LS. Using the A allele as a risk factor, RR analysis showed a significant association with a risk factor when comparing HS with LS (RR=1.086; 95% CI=1.032-1.142; P=0.049). The analysis of the OR and RR between the HS and LS showed that the AA and AG genotypes were associated with an increased risk for heavy smoking (OR=9.714; 95% CI=1.196-78.874; RR =1.126; 95% CI=1.027-1.235; P=0.026). We cannot dismiss the possibility that our results may reflect the small sample size. Despite this potential limitation, the significant associations should not be disregarded and merit further investigation for clarification of these results.

Frequency of the Risk A Allele of rs17713054 Localized in the 3p21.31 COVID-19 Risk Locus in the Yakut Population

Background: Genome-wide association studies identified the region of chromosome 3p21.31 as having the strongest association with the severe COVID-19 and susceptibility to SARS-CoV-2 infection. The aim of our study was to investigate the frequency of the risk A allele of rs17713054 localized in the 3p21.31 COVID-19 risk locus in Yakuts. Methods and Results: A total of 382 DNA samples from healthy Yakut volunteers (184 men and 198 women; the average age of 41.8±0.05 years) were examined. Our results show that the frequency of the risk A allele of the rs17713054 SNP in the Yakut population occurs at a frequency of 2% and generally corresponds to the frequency of East Asian populations (from 0% to 2%), geographically close to the Yakuts and belonging to the same Mongoloid race.

Анализ ассоциаций микросателлитного локуса RS1 гена рецептора аргинин-вазопрессина (AVPR1A) с уровнем гормонов передней доли гипофиза и вариациями черт личности в популяции якутов

Для изучения роли генетических факторов в формировании черт личности и возможных взаимосвязей с гормональным статусом индивида актуальным представляется анализ полиморфизма одного из генов, оказывающих влияние на психические процессы, - гена рецептора аргинин-вазопрессина AVPR1A. Цель работы - поиск ассоциаций числа повторов микросателлитного локуса RS1, определяющего уровень экспрессии гена AVPR1A, с уровнем гормонов передней доли гипофиза и вариациями черт личности у здоровых мужчин в якутской популяции. В выборку исследования были включены мужчины якуты в возрасте 18-26 лет (n=121). Анализ числа повторов проводился методами ПЦР и секвенирования первичной нуклеотидной последовательности. Уровень гормонов в сыворотке крови оценивали твердофазным иммуноферментным методом. Установлено, что в популяции якутов чаще встречаются короткие (S) аллели локуса RS1 гена AVPR1A, содержащие ≤10 повторов (63%) и соответствующие им SS-генотипы (44,6%), индивиды с длинными (LL) и гетерозиготными (SL) генотипами составили 18,2% и 37,2%, соответственно. Для поиска возможной связи локуса RS1 гена AVPR1A с гормональным статусом проведен поиск ассоциаций между SS-, SL- и LL-генотипами и уровнем гормонов передней доли гипофиза АКТГ, ТТГ, ФСГ и ЛГ. Диапазон концентраций АКТГ и ТТГ в группе лиц с SS-генотипами был значимо ниже концентраций, регистрируемых в группе лиц с LL-генотипами (p=0,042 и р=0,048, соответственно), а уровень ЛГ, наоборот, имел статистически значимо более высокие значения (p=0,029). При поиске ассоциаций между генотипами локуса RS1 гена AVPR1A и вариациями черт личности установлено, что лица с SS-генотипами демонстрируют статистически значимо более высокие показатели по таким чертам личности, как «поиск новизны» (р=0,02) и «зависимость от вознаграждения» (р=0,01) по сравнению с носителями LL-генотипов. Полученные результаты могут указывать на модулирующий эффект генетических вариантов AVPR1A на формированиие межиндивидуальных различий в уровне гормонов передней доли гипофиза, которые могут оказывать влияние на манифестацию особенностей психоэмоциональной сферы у человека. To study the role of genetic factors in personality traits development and possible association with the hormonal status of an individual, it is relevant to analyze the polymorphism of genes affecting mental processes, in particular, the arginine-vasopressin receptor gene (AVPR1A). The aim of this study was to search for associations of the microsatellite locus RS1, which affects f AVPR1A expression level, with the hormones level of the anterior lobe of the pituitary gland and personality traits in the Yakut population. The study sample included Yakut men aged 18-26 years (n=121). Analysis of the number of RS1 repeats was carried out using PCR method and sequencing of the primary nucleotide sequence. Serum hormone levels were determined by enzyme-linked immunosorbent assay (ELISA). In the Yakut population alleles and genotypes frequencies of the AVPR1A RS1 locus have been determined, “short” (S) alleles containing ≤10 repeats (63%) and the corresponding SS genotypes (44.6%) were more frequent, while individuals with “long” (LL) and “heterozygous” (SL) genotypes accounted for 18.2% and 37.2%, respectively. To search for a possible association between the AVPR1A RS1 locus and the hormonal status of Yakut men, we analyzed associations between the SS, SL, and LL genotypes and the level of hormones of the anterior lobe of the pituitary gland such as ACTH, TSH, FSH, and LH. The range of concentrations of ACTH and TSH in the group of individuals with SS genotypes was significantly lower than that observed in the group of LL genotype-carriers (p=0.042 and p=0.048, respectively), and the LH level, on the contrary, was statistically significantly higher (p=0.029). When searching for associations between genotypes of the RS1 AVPR1A locus and individual variance in personality traits, it was found that individuals with SS genotypes demonstrated statistically significant increase in such personality traits as “novelty seeking” (p=0.02) and “reward dependence ” (p=0.01) compared to LL genotypes. The results obtained indicate the modulating effect of genetic variants of the AVPR1A gene in the formation of interindividual differences in the level of hormones of the anterior lobe of the pituitary gland, which could affect the manifestation of psychoemotional sphere in humans.