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An issue of endometrial hyperplastic processes in the reproductive period is one of the pressing problems of gynecology due to their high prevalence in this age group. The continuing interest in this issue is determined by the data that endometrial hyperplastic processes tend to have a long, relapsing course, the lack of specific, pathognomonic symptoms as well as the complexity in differential diagnosis and choice of methods for prevention and treatment. Unfortunately, the problem of treating such patients remains far from being solved, which dictates a need to optimize patient management tactics, which should be aimed not only at creating proper integrated approaches to predicting development and recurrence of endometrial hyperplastic processes, but also developing a differentiated approach to management patients with this pathology in order to reduce gynecological and oncological morbidity as well as increase reproductive potential in this patient cohort.

Abstract We present new mineralogical data of cronstedtite from the Southern-2 orebody, located in the South-Western branch of the Talnakh intrusion (Noril’sk area) composed of massive sulfides in which the total amount of oxides and silicates does not exceed 1–3 vol%. The petrographic and mineralogical features of these ores indicated occurrence of fine-grained, fibrous needle like clusters

Relevance. Development of controlled release fertilisers and their granulation is at the forefront of agriculture and environment. With growing world population and increasing food demand, agriculture faces the challenge of efficient resource management and increased crop yields. In this environmentally friendly and easy to obtain and use fertilisers become a key element for sustainable development of agribusinesses. Aim. To study the complete cycle of creation of granular fertilisers based on new materials, including aggregation of mineral particles with different binding solutions and mechanochemical activation of initial mixtures of glauconite and urea. Potassium-containing clay mineral – glauconite of Karinskiy deposit (Russia) was used as a "container" material. Urea containing up to 46 wt % of nitrogen was used as an additive (nutrient) component for fertilisers. The following parameters were stable during mechanochemical preparation: mineral/urea ratio and abrasion type. Solutions with different nitrogen concentrations were used as binders during granulation. The methodology for investigating the characteristics of the resulting nanocomposites included particle size analysis, X-ray diffraction analysis, scanning electron microscopy, and FTIR spectrometer. Results. The advantages of different granulation options for mechanochemically activated composites were investigated. The authors have produced f full cycle of controlled-release granular fertiliser. The average nitrogen content in glauconite particles reaches 5.5 wt %. The granule size depends on the content of urea gel concentrate in the binder. The maximum strength and proportionality of granules are achieved, when using a binder consisting of 100% urea gel concentrate. Determination of the optimal content of gel concentrate in the binder used in granulation plays a key role in obtaining strong fertiliser granules.

Link for citation: Soldatova E.A., Sidkina E.S., Kiriukhin B.A., Maximov P.N., Krivenok L.A., Ivanov V., Tananaev N.I. Geochemical conditions of Sullar spring: formation of authigenic minerals and methane fluxes. Bulletin of the Tomsk Polytechnic University. Geo Аssets Engineering, 2023, vol. 334, no. 10, рр. 16-33. In Rus. Relevance and the research object. Interpermafrost aquifers and areas of their discharge with seasonal ice covers are special permafrost-hydrogeological and hydrochemical systems that are not typical for the thick continuous permafrost zone of Central Yakutia. Differences in chlorofluorocarbon content indicate the anaerobic conditions of some springs suggesting microbial degradation of these compounds by methanogenic bacteria. In the discharge area of such springs, a sharp change in the geochemical conditions takes place leading to a transformation in the water chemical composition and boosting the processes of authigenic mineral formation in this buffer area. In current work we considered the geochemical system of the Sullar spring – the most northern and the least studied among interpermafrost groundwater discharge zones of the Lena River right bank. Intensive accumulation of authigenic minerals was found in the Sullar discharge area during field research. It was Fe compounds with bacterial mats as an opalescent film. Some researchers state the connection between the transformation of Fe compounds during permafrost melting and the migration and transformation of organic matter, including its consumption by microorganisms with further methane emission. We assumed that there is a relationship between the authigenic mineral formation and the content and emission of methane in the discharge area of the spring. This research is the first comprehensive description of the hydrochemistry of the interpermafrost water of the Sullar spring. The aim of the research was to explore influence of geochemical conditions and microbial communities on formation of authigenic minerals and methane fluxes, in particular the effect of the change of geochemical conditions due to groundwater discharge on Fe precipitation and to analyze the relation of that process with methane fluxes. For this purpose, we study water chemical composition of the Sullar spring, measure methane fluxes from water surface and analyze mineral and microbial composition of secondary mineral crusts and bottom eluvium collected near water sampling points. Methods. The main element content was determined by ion chromatography. The concentrations of the bicarbonate ion and dissolved carbon dioxide were calculated by the equilibrium modeling method based on the pH and Eh values of the system. The content of trace elements was measured by mass spectrometry with inductively coupled plasma. To identify seasonal and annual variability, a retrospective analysis of the water chemical composition of the Sullar spring for the period from 1962 to 2020 was carried out. Methane fluxes were measured using the chamber method. The methane concentration was determined by gas chromatography with a flame ionization detector. The features of the secondary mineral crusts and bottom eluvium were determined using a petrographic microscope. The chemical composition of individual mineral phases was evaluated using a scanning electron microscope equipped with a detector for energy dispersive X-ray spectral microanalysis. The DNA concentration was measured on a fluorimeter. Amplicon libraries were generated by polymer chain reaction with universal primers for the V4 region. Equilibrium modeling was carried out using the HCh software.

The relevance of this study is determined by lack of information of the behavior and accumulation of non-conventional metals (-oids), such as tellurium, bismuth, selenium (TBS-microelements), involved in modern industries, as well as the limited information about deposits, in which they are able to accumulate significant concentrations, including in association with native gold. Such objects are represented by some epithermal deposits. Russia's share in the total balance of these deposits accounts for a negligible number, although in some regions, such as the Arctic, Siberian and Far East, they have a significant role. The key task of this research is to investigate the material composition and conditions of gold and TBS-microelements formation in an exotic for the low sulfidation type «copper mineral association» of the Baranyevskoe Au-Ag epithermal deposit (Central Kamchatka). The objects of the research are ores and their host altered rocks in the form of core-, hand-and-chip-samples. Research methods. Minerals, ores, and host altered rocks were studied by electron and optical microscopy, as well as by X-ray diffraction analysis, microthermometry, Raman and infrared spectroscopy. To determine the temperatures of phase transitions, salinity and composition of gas-liquid inclusions, microthermometry and Raman spectrometry of bipolished plates were carried out. It was established that the main volume of the «copper mineral association» with gold enriched in tellurium, selenium, bismuth is associated with illite-muscovite quartz formed in modern altered rocks of late Miocene–Holocene age. The composition of copper mineralization is represented by copper sulfides (geerite (Сu8S5), sometimes with impurities of Pd (up to 0,8 wt. %) and Te (up to 1,9 wt. %), chalcopyrite, bornite, tetrahedrite fahlore with Bi impurities (up to 11,16 wt. %), wittechenite (Cu3BiS3), emplectite (CuBiS2), miharaite (PbCu4FeBiS6), aikinite (CuPbBiS3), finegrade gold (Au 920–980), gold and silver tellurides, telluro-selenides Bi and Pb, including non-stoichiometric (unknown), to a lesser extent, pyrite sporadically enriched in Cu (up to 0,9 wt. %), galena enriched in Se (up to 8,5 wt. %). As a result of the data obtained, it was established that the gas-liquid inclusions in quartz and calcite, the hydrothermal-ore process proceeded at temperatures of 250…305 °C at a salinity of 0,5…1,2 wt. % NaCl equiv. As a result of studying the material composition of ore and vein mineralization, it is assumed that aqueous H3TeO3+ and H2TeO3, chloride BiCl3(aq) (III) solutions, and carbon dioxide participated in ore formation.

The relevance of the research. This article presents the study of formation conditions of siderite in the environment of the marine ironstones precipitation of the Bakchar deposit. The origin of marine ironstone deposits including relationships with other mineral deposits keeps discussed scientific issue long time. The formation of siderite in the environment of an ooidal ironstone deposition is poorly understood regarding the carbon and metals sources, mobilization and transportation, as well as the conditions and kinetics of carbonate precipitation. The goal of the work was to the study the origin and evolution of siderite as the key cement mineral of ooidal ironstones to assess the factors for the geological processes of deposit formation in the example of the Cretaceous-Paleogene Bakchar deposit in Western Siberia. The methods: optical microscopy, petrographic analysis, scanning electron microscopy (SEM) with local energy dispersive analysis (EDS), microthermometric analysis, Raman spectroscopy and isotope mass spectrometry. Results. Siderite in ooidal ironstones can be of two main variations that differ in morphology, chemical and isotopic composition, fluid inclusions due to different carbon sources and precipitation conditions. The first variety of siderite is formed due to the mobilization of hydrothermal methane fluids. The second one reflects the carbonate formation on the seabed. The authigenic mineral associations of cement in ironstones at thin intervals (from 2 to 6 m in thickness) mark the change of geochemical zones from methane through sulfide (sulphate-methane transition zone) to ferruginous (iron reduction zone). Layers with similar vertical zonation of in situ minerals, represented by the co-occurrence of siderite, phyllosilicates, hydrogoethite, and rare sulfides, are proximal zones that indicate periods of an intense exhalative of metal-bearing fluids.

The relevance. The formation of ooidal ironstones has been the subject of many scientific discussions for a long time. The purpose of this work is to study the mineralogical and geochemical features of ooidal ironstone to access the sedimentation and geochemical conditions of their formations. The methods: petrographic analysis, scanning electron microscopy, transmission electron microscopy, X-ray fluorescence analysis, mass spectrometry with inductively coupled plasma. The paper introduces the mineralogical and geochemical characteristic of the Ayat Formation indicating their diagenetic origin in a coastal marine environment. The presence of various authigenic minerals, such as glauconite, apatite, pyrite, wurtzite, barite, siderite, indicates the fluctuations of the geochemical conditions during the diagenesis of marine sediments. The formation of pyrite and wurtzite was controlled by oxygen-depleted conditions with the bacterial sulfate reduction at the water-sediment interface. The association of goethite, siderite, berthierine, wurtzite, pyrite and barite among iron-rich ooids indicates a single process of their input. According to mass spectrometry, the average total content of rare earth elements was 83,1 ppm, while there is a general deficit of La, Ce, Pr, Nd. The behavior of rare earth elements and microelements has similar features for marine ironstones of Ayat Formation and channel ironstones of Lisakovsk deposit. This indicates the same diagenetic process of ironstone formation, while the enclosing sediments have distinctive facies conditions.

Aim of the study was to investigate the associations of polymorphisms of some genes with overweight and some anthropometric and biochemical indicators in a population sample of the young population of Novosibirsk. Material and methods. The study was carried out on a sample of young people aged 25–35 years, residents of Novosibirsk, selected by the method of random numbers (n = 319). During the survey, a questionnaire was filled out, anthropometric measurements, blood sampling, followed by biochemical and molecular genetic studies were carried out. Results. The odds ratio (OR) to detect a carrier of the AA rs9939609 genotype of the FTO gene in the group with an increased body mass index (BMI) compared to the group with a normal BMI is 2.1 times higher (95% confidence interval (95 % CI) 1.2– 3.8; p = 0.019 in the AA vs AT+TT model). In the Kruskal – Wallis test in the general group, differences were found in carriers of different rs9939609 genotypes of the FTO gene in the thickness of the skin fold in the middle third of the right shoulder (p = 0.0008) and under the right shoulder blade (p = 0.026). In carriers of the AA genotype, these indicators were noticeably higher compared to carriers of the AT and TT genotypes. Differences in high density lipoprotein cholesterol were found in women (p = 0.032; the lowest level in the AA genotype) and low density lipoprotein cholesterol (p = 0.027; the highest value in the AA genotype). In addition, female carriers of the TT rs7903146 genotype of the TCF7L2 gene had lower diastolic blood pressure than carriers of the CT and CC genotypes (p = 0.027). The probability of detecting a male carrier of the CT or TT genotypes of the TCF7L2 gene polymorphism rs7903146 in the obese group is 0.313 (95 % CI 0.102–0.955; p = 0.036 in the CC vs CT+TT model) compared with the group with excess BMI (25 ≤ BMI < 30 kg/m2 ). The probability of detecting the allele with rs10811661 of the CDKN2AB gene in the obese group is 2.2 times higher (95 % CI 1.1–4.5; p = 0.035) compared with the group with an excess BMI. Conclusion. The association of overweight in the population sample of the young population of Novosibirsk was confirmed with rs9939609 of the FTO gene, rs7903146 of the TCF7L2 gene, rs10811661 of the CDKN2AB gene. The association of rs2237892 of the KCNQ1 gene and rs1111875 of the HHEX gene with overweight was not found. Associations of the studied SNPs with some anthropometric and biochemical indicators were found.

In the context of the transition of the Russian autocracy to absolutism, Kalmyk Khanate was introduced into the unified system of Russia in the first quarter of the 18th century, and changes in its legal status are gradually being made. As a result of the reforms carried out in the first half of the 18th century, Kalmyk Khanate lost its political status of autonomy and acquired the features of administrative autonomy, the legal status of its ruler changed in relations with the emperor to direct servants. After the migration of a large part of the Kalmyks to the province of Xinjiang of China, the remaining ulus were introduced into the Astrakhan province on the rights of the county and subordinated to its administration. As a result of administrative and political reforms in the early 19th century Kalmykia was elevated to the status of an internal region with elements of the subject of the state within the Astrakhan province led by the governor, then the chief usher appointed by the emperor. These reforms corresponded to both the national interests and, to a certain extent, the interests of the Kalmyk people.

The aim of the research is to verify the association with sudden cardiac death (SCD) of single nucleotide polymorphisms rs10867772 and rs4700290, identified as new molecular genetic markers of SCD in the own genome-wide pooled allelotyping. Material and methods. Case-control study. The SCD group is formed using the criteria of the European Society of Cardiology from the DNA bank of suddenly deceased residents of the Oktyabrsky district of Novosibirsk (n = 437, average age—53.1 ± 9.0 years, men — 73.5%, women — 26.5%) The control group (n = 405, average age 53.2 ± 9.2 years, men — 70.0%, women — 30.0%) is formed from the DNA bank of participants of MONICA and HAPIEE projects. DNA was isolated by phenol-­chloroform extraction from myocardial tissue in the SCD group and venous blood in the control group. Genotyping was performed by the PCR-RFLP method. Results. No statistical significance was found in allele and genotype frequencies of rs10867772 and rs4700290 between groups, even in separating in sex and age (p> 0.05). Conclusion. Single nucleotide polymorphism rs10867772 and rs4700290 are not associated with SCD.

Pulse wave amplification and augmentation are considered as new indicators of arterial stiffness. It is of interest to study their association with electrocardiographic pro-arrhythmic patterns in the male population of Novosibirsk. Material and methods. We used data from a representative sample of 145 men aged 25-44 years from a population of inhabitants of Novosibirsk. Applanation tonometry of the radial artery and pulse wave analysis were performed using the SphygmoCor system (AtCorMedical, Australia). The Brugada pattern, the pattern of early ventricular repolarization and fragmentation of the QRS complex were determined on a resting electrocardiogram according to generally accepted current criteria. When analyzing the data, descriptive statistics methods and the general linear model (GLM) were used. Results. Fragmentation of the QRS complex in the in the area of the inferior wall of the left ventricle, regardless of age, body mass index and heart rate, was associated with a decrease in the ratio of amplification of pulse pressure (F = 5.34; p = 0.022), amplification of pulse pressure (F = 5.91; p = 0.016) and amplification of systolic pressure (F = 5.02; p = 0.027). Conclusion. In the Novosibirsk male population, a decrease in pulse wave amplification was associated with fragmentation of the QRS complex. The results of this study demonstrate the relevance of an integrated assessment of prognostically significant indicators of arterial stiffness and ventricular pro-arrhythmia to study the possible cumulation of cardiovascular risk.

Atrial fibrillation (AF) is one of the most common tachyarrhythmias, contributing to both environmental and genetic factors, a clear understanding of which can be extremely important for determining management tactics and predicting the disease course. The article provides a brief overview of studies on genetic predictors of AF, in particular, SNP markers found on chromosome 10. Establishing a relationship between the identified SNPs on chromosome 10 and functional genes, changes in the structure or regulation of which can affect the development of AF, opens the veil of understanding how these SNPs affect the pathogenesis of AF.

Objective: to study the association of DRD2/ANKK1 Taq1A polymorphism with depression in an open 45–64-year-old male population from Novosibirsk.Patients and methods. A representative sample of an open 45–64-year-old male population (n=781) was surveyed within Screening IV of the international HAPIEE program and the WHO MONICA-psychosocial program in 2003–2005. All the study participants filled out the WHO MONICA-psychosocial Program Depression Scale. The DRD2/ANKK1 Taq1A C32806T (rs 1800497) polymorphism was genotyped using the published methods within the budgeting topic. The Pearson's chi-square (2) test was applied to test the statistical significance of differences between the groups. Significance in all types of analysis was taken at p ≤0.05.Results and discussion. The prevalence of depression in the open 45–64-year-old male population was 36.3%: 13.5% of the examinees had severe depression (SD) and 22.8% had moderate depression (MD). A comparative intergroup analysis showed that the odds ratio (OR) for the incidence of SD was 3.86 times higher in the T/C genotype carriers than in the C/C genotype ones, who, on the contrary, had no depression; the OR for the incidence of SD was also 3.28 times higher in the T/C genotype carriers, while MD was more common in the homozygous C/C genotype carriers. The OR for the incidence of SD was 2.63 times higher in the DRD2 T allele carriers than in the C allele carriers who did not suffer from depression in most cases.Conclusion. A significant association was established between the carriage of Taq1A (T allele) and depression in 45–64-year-old males.

Aim. Assessment of the associations of mononucleotide polymorphisms (MNP) of genes: KCNN2 (rs13184658, rs10076582, rs338625) and NOS1AP (rs12567209, rs348624, rs3751284, rs 12143842), with sudden cardiac death (SCD), and evaluation of the clutch units.Material and methods. The study designed as a case-control. Group of males, died SCD (n=278) was formed according with the European Cardiology Society criteria. The controls (n=274), matched by age and gender, was collected from DNA of international research projects MONICA and HAPIEE. Genomic sequencing was done with real time PCR. For inequation assessment of the clutch groups within the MNP pairs, the D’ coefficient was in use. Comparison of the groups by the rates of genotypes and alleles was done with a contingency tables and Chi-square by Pearson. Relative SCD risk was calculated as an odds ratio with Fischer criteria and Chi-square. The differences were noted as significant with p

Abstract Background Mutations in GJB2 gene are a major causes of deafness and their spectrum and prevalence are specific for various populations. The well-known mutation c.35delG is more frequent in populations of Caucasian origin. Data on the c.35delG prevalence in Russia are mainly restricted to the European part of this country. We aimed to estimate the carrier frequency of c.35delG in Western Siberia and thereby update current data on the c.35delG prevalence in Russia. According to a generally accepted hypothesis, c.35delG originated from a common ancestor in the Middle East or the Mediterranean ~ 10,000–14,000 years ago and spread throughout Europe with Neolithic migrations. To test the c.35delG common origin hypothesis, we have reconstructed haplotypes bearing c.35delG and evaluated the approximate age of c.35delG in Siberia. Methods The carrier frequency of c.35delG was estimated in 122 unrelated hearing individuals living in Western Siberia. For reconstruction of haplotypes bearing c.35delG, polymorphic D13S141, D13S175, D13S1853 flanking the GJB2 gene, and intragenic rs3751385 were genotyped in deaf patients homozygous for c.35delG (n = 24) and in unrelated healthy individuals negative for c.35delG (n = 67) living in Siberia. Results We present updated carrier rates for c.35delG in Russia complemented by new data on c.35delG carrier frequency in Russians living in Western Siberia (4.1%). Two common D13S141-c.35delG-D13S175-D13S1853 haplotypes, 126-c.35delG-105-202 and 124-c.35delG-105-202, were reconstructed in the c.35delG homozygotes from Siberia. Moreover, identical allelic composition of the two most frequent c.35delG haplotypes restricted by D13S141 and D13S175 was established in geographically remote regions: Siberia and Volga-Ural region (Russia) and Belarus (Eastern Europe). Conclusions Distribution of the c.35delG carrier frequency in Russia is characterized by pronounced ethno-geographic specificity with a downward trend from west to east. Comparative analysis of the c.35delG haplotypes supports a common origin of c.35delG in some regions of Russia (Volga-Ural region and Siberia) and in Eastern Europe (Belarus). A rough estimation of the c.35delG age in Siberia (about 4800 to 8100 years ago) probably reflects the early formation stages of the modern European population (including the European part of the contemporary territory of Russia) since the settlement of Siberia by Russians started only at the end of sixteenth century.

Письмо редакторуФибрилляция предсердий (ФП), наряду с хронической сердечной недостаточностью и сахарным диабетом, отнесена мировым медицинским сообществом к числу трех сердечно-сосудистых «эпидемий XXI века» [1, 2]. В последние годы распространенность ФП неуклонно увеличивается, при этом истинная причина роста частоты ФП не может быть объяснена лишь увеличением продолжительности жизни пациентов, более частым поражением клапанов сердца или ростом распространенности инфаркта миокарда [3].Несмотря на то что ФП встречается у лиц с различными проявлениями ишемической болезни сердца, все чаще она диагностируется у больных артериальной гипертонией, не страдающих ишемической болезнью сердца [4]. Фибрилляция предсердий, как причина серьезных сердечно-сосудистых осложнений, требует глубокого понимания патогенетических аспектов и всестороннего изучения проблемы с учетом сопутствующей коморбидной патологии для выявления предикторов развития и прогрессирования.Наследственные факторы в развитии ФП и гипертонической болезни могут играть значительную роль, поэтому в мировой практике научных исследований по фундаментальной медицине большое внимание уделяют молекулярно-генетическим методам анализа.Целью исследования было изучить генетические детерминанты у больных с прогрессированием ФП на фонегипертонической болезни в сочетании с различной экстракардиальной коморбидной патологией.В проспективное когортное исследование включены 167 пациентов с пароксизмальной и персистирующейформами ФП и гипертонической болезнью III стадии без ишемической болезни сердца. Средний возраст исследуемых пациентов составил 53,3±7,1 года. Выделение ДНК из лейкоцитов крови проводилась методом фенол-хлороформной экстракции. Тестирование полиморфизма rs1378942 в гене CSK, полиморфизма rs220073, полиморфизма –174G/C (rs1800795) гена IL6 выполнялось с помощью полимеразно-цепной реакции с последующим анализом полиморфизма длины рестрикционных фрагментов. Проверка статистических гипотез проводилась при критическом уровне значимости р = 0,05, различие считалось статистически значимым при pПоказаны ассоциации полиморфизмов rs1378942 гена CSK, rs1800795 гена IL6 и rs220073 с прогрессированием фибрилляции предсердий на фоне сопутствующих заболеваний: гипертонической болезни, хронической обструктивной болезни легких, гипотиреоза, сахарного диабет 2-го типа, абдоминального ожирения. Относительный риск (ОР) прогрессирования ФП у носителей аллеля с в1,94 раза выше, чем у носителей аллеля а (95% доверительный интервал [ДИ] 1,21–3,09). Носительство генотипа АА является протективным фактором в отношении прогрессирования ФП (ОР 0,41; 95% ДИ 0,21–0,80; р = 0,010) (рисунок).Обнаружены также ассоциации полиморфизмов rs1378942 и rs1800795 с прогрессированием фибрилляциипредсердий на фоне отдельных сопутствующих заболеваний. Кроме того, выявлены ассоциации rs1378942 с уровнями глюкозы, холестерина липопротеинов высокой плотности, триглицеридов, скорости клубочковой фильтрации, креатинина, систолического и диастолического артериального давления, толщиной стенки левого предсердия; rs220073 с уровнями триглицеридов, индекса атерогенности, креатинина, фибриногена, с переходом пароксизмальной формы в персистирующую; rs1800795 с уровнямихолестерина липопротеинов высокой плотности, креатинина, диастолического артериального давления, галектина-3.Вторичная форма фибрилляции предсердий развивается под влиянием факторов как внешней среды, так и наследственной природы. Сложность этиопатогенеза заболевания ставит перед исследователями крайне непростую задачу по поиску факторов, играющих ведущую роль в развитии патологического процесса. В настоящее время проведены ассоциативные исследования фибрилляции предсердий с полиморфизмами более 260 генов, выполнены полногеномные ассоциативные исследования. Воспроизводимость результатов зависит от целого ряда факторов: возраста и пола пациентов, сопутствующих заболеваний, этнической принадлежности, пенетрантности, экспрессивности, плейотропности, различных эпигенетических влияний.Несмотря на ограничения выборки, наше исследование добавляет к уже имеющимся данным материал, который вносит вклад в прогностическую оценку развития и прогрессирования фибрилляции предсердий. Дальнейшие исследования позволят разработать персонифицированный алгоритм прогнозирования прогрессирования фибрилляции предсердий при гипертонической болезни в сочетании с экстракардиальными заболеваниями. Более крупные исследования, с привлечением других учреждений и увеличением выборки пациентов представят возможность прогнозирования прогрессирования фибрилляции предсердий с определением дополнительных молекулярных критериев оценки эффективности патоге-нетической терапии и возможностей таргетного лечения.ФинансированиеИсследование не имело спонсорской поддержки.Конфликт интересовАвторы заявляют об отсутствии конфликта интересов.

Search for molecular genetic markers of risk and prognosis of breast cancer is an important prospective of modern research. Many molecular mechanisms are involved in pathogenesis of breast cancer and define a wide range of possible candidate genes. The genes of pro-inflammatory cytokine receptors, such as tumor necrosis factor and interleukin-1, are also among potential candidate genes. Numerous functional allelic variants of these genes have been shown which are associated with changed expression of membranebound and soluble forms of the receptors. In addition, they are expressed both on immunе cells and epithelial and endothelial cells. They regulate functional status of the cells, synthesis and activities of enzymes controlling extracellular matrix and angiogenesis factors. These functions of tumor necrosis factor and interleukin-1 receptor proteins may contribute to pathogenesis of tumor growth. The aim of present study was to compare frequency of functional allelic variants of genes encoding TNF and IL-1 receptors in breast cancer patients and healthy women. We performed genotyping of distinct SNPs (rs4149569 TNFRSF1A, rs590368 TNFRSF1B, rs2234650 IL1RI, and rs4141134 IL1R2) that previously were shown to be associated with expression of TNF and IL-1 receptors on immune cells. Comparative analysis of the genotype frequencies in the samples under study showed a significantly reduced frequency of CC homozygotes for rs590368 polymorphism (TNFRSF1B gene), and increased ratio of CT heterozygotes for rs2234650 polymorphism (IL1R1 gene) among breast cancer patients. Hence, some gene polymorphisms associated with altered expression levels of TNF and IL-1 receptors on immune cells may represent a factor which may determine involvement of proinflammatory cytokines into pathogenesis of breast cancer.

Aim. To assess the efficacy of regional system of multidisciplinary care in pulmonary hypertension (PH).Material and methods. In a single-center, pro and retrospective cohort study, 2001-2015, the epidemiological characteristics and yearly mortality from PH were assessed in the created in late 1990s multiple system of PH management in the Udmurt Republic. According to the specific drug therapy tactics, there were three periods of observation: in 2001-2005 PH patients received, by indication calcium channel blockers and supportive therapy; in 2006-2010 sildenafil was added; from 2011 pulmonary arterial hypertension (PAH) patients also received bosentan, ambrisentan, and in chronic thromboembolic PH —inhaled iloprost.Rеsults. In the cardiology and rheumatology clinic of the Udmurt Republic, a multidisciplinary system of PH management was shaped, with three-stage individualized care of patients, beginning from newborn period (1st stage — pre-hospital, 2nd — hospital, 3rd — rehabilitation). Within the first 5 years of follow-up, mortality of PH patients was 15-12% per year, from 2006 to 2010 — 10-7,5% per year, in 2011-2015 — 5,6–3,8% (р2015-2001=0,008).Conclusion. Interprofessional approach to PH patients care in thecircumstances of regional center and therapy by PAH-specific drugs significantly increased survival rate of patients.

Depressive disorder (DD) is a widespread mental disorder. Although DD is to some extent inherited, the genes contributing to the risk of this disorder and its genetic mechanisms remain poorly understood. A recent large-scale genome-wide association Chinese study revealed a strong association between the SIRT1 gene variants and DD. The aim of this study was to analyze the occurrence of heterozygote carriers and search for rare SNP variants of the SIRT1 gene in a cohort of DD patients as compared with a cohort of randomly selected members of the Russian population. The complete coding sequences of the SIRT1 gene from 1024 DNA samples from the general Russian population and from 244 samples from patients with DD were analyzed using targeted sequencing. Four new genetic variants of the SIRT1 were discovered. While no significant differences in the allele frequencies were found between the DD patients and the general population, differences between the frequencies of homozygote carriers of specific alleles and occurrences of heterozygous were found to be significant for rs2236318 (P < 0.0001), and putatively, rs7896005 (P < 0.05), and rs36107781 (P < 0.05). The study found for the first time that two new SNPs (i.e., 10:69665829 and 10:69665971) along with recently reported ones (rs773025707 and rs34701705), are putatively associated with DD. The revealed DD-associated SIRT1 SNPs might confer susceptibility to this disorder in Russian population of European descent.

The research concerns the task of identification of contrasted single nucleotide polymorphisms (SNPs) obtained in genome-wide pooled allelotyping of 16 human cohorts, comprising healthy and ill persons, by the nested case–control approach. The genotyping platform was the Illumina Omni1S chip with 1.2 million markers. The mean pooled sample size was about 200 individuals. The candidate selection was based on statistical comparison of allele frequencies in a “case–control” study. Samples of ill patients show significant deviations from healthy persons in the numbers of significantly differing polymorphisms. The variance of allele frequencies among repeats in a single cohort was less than that in random choice of pairs from different cohorts.

Aim. To check whether the mononucleotide polymorphisms (MNP), identified in recent studies do match a risk marker criteria for arterial hypertension (AH) in Siberian population.Material and methods. The group of subjects with AH and control group (relation 2:1) were formed from the population selection of 45-69 years old citizens of Novosibirsk (9400 subjects), which had been collected during the work in HAPIEE project. Totally 514 subjects included, of those controls – 168 (127 men and 41 women) with BP not higher than “normal” by the data of 2 and more examinations during the last years, with interval not more than 6 months. Group with AH consists of 346 subjects (206 men and 140 women) with the diagnosis of AH. Genomic DNA was extracted from venous blood by the method of phenol-chloroform extraction. Gene polymorphism was tested by PCR in real time according to the protocol of equipment manufacturer (zonds TagMan, Applied Biosystems, USA) on the device ABI 7900HT. These MNP were included into the study: rs699 gene AGT, rs5068 gene NPPB, rs17367504 gene MTHFR, rs2681492 gene ATP2B1, rs4343 gene АСЕ, rs1801253 gene ADRB1, rs11240692 gene REN, rs2846679 gene KCNJ1, rs239345 gene SCNN1B, rs1799983 gene NOS3.Results. The risk relation to develop AH in men – carriers of GG rs699 gene AGT was1,95 (95% CI 1,08-3,53; p=0,003) comparing to the carriers of two other genotypes. Carriage of AA genotype rs699, opposite, is probably protective factor for AH development in men (HR 0,47; 95% CI 0,27-0,81; p=0,007).Conclusion. For two from ten MNP studied the association with AH was confirmed in men: rs699 gene AGT and rs5068 gene NPPB.

We have performed analysis of associations between IL-1β gene promoter polymorphism (-511C/T and -31 T/C variants), and conventional cardiovascular risk factors in the patients living in the West Siberia who had previously a history of myocardial infarction (MI). We are shown a strong linkage disequilibrium between IL-1β -31C/T (rs1143627), and IL-1β-511T/C (rs16944). Significant differences in frequency distributions of some compound genotypes were observed between healthy and patients with a history of MI. E.g., frequency of IL-1β-31CC/-511CT genotype was detected in 5.5 % of healthy population, while being absent among MI patients. A frequency of IL-1β (-31/-511) CC/CT genotype showed significant differences between MI patients under 55 years, as compared to healthy persons. Hence, the analyzed IL-1β promoter polymorphisms may be considered as an additional constitutional factor predisposing for vascular alterations.

Abstract. We have carried out a prevalence analysis of IL6 (-174 G/C) gene promoter polymorphism and traditional cardiovascular risk factors in male patients living in the West Siberia that survived myocardial infarction (MI) in their anamnesis. Analysis of genotype frequencies have shown decrease of *-174 GG genotype in the patients with MI. Frequency of the same genotype is decreased among smoking patients as compared to healthy non-smokers. On other hand, an increased body weight and arterial pressure indexes increase is found in IL6*-174 G patients, versus healthy population. Hence, the analyzed IL6 (-174 G/C) polymorphism may be considered as an additional predisposition factor for development of vascular damage.

Аbstract. We have performed an analysis of associations between allelic polymorphisms of heat shock protein (HSP) genes, i.e., HSP70-2 1267А→G and HSP70-НОМ 2437Т→С in Caucasian patients with acute myocardial infarction (AMI) in anamnesis, along with evaluation of common risk factors for MI. Frequency of HSP70-HOM*TC heterozygous variant proved to be significantly higher in the group with Kettle body mass index (BMI) exceeding 25, as compared with a group of relatively healthy persons. By contrary, frequency of HSP70-HOM*CC homozygosity in the MI group with BMI > 25 was significantly lower, than among healthy persons. When comparing genotype frequencies among MI patients with BMI > 25 and those with BMI

Aim. To assess the associations between predisposition genes (TGF-p1, HHIP, IL6R, SOD3, and CHRNA3), in relation to peripheral vascular structure and function, endothelial dysfunction, and cytokine status, in geriatric patients with chronic obstructive pulmonary disease (COPD) and arterial hypertension (AH). Material and methods. In total, 154 geriatric patients with either isolated AH or the combination of AH and COPD underwent clinical, functional, laboratory, ultrasound, and cytogenetic examination.Results. The key associations between predisposition genes, in relation to peripheral vascular structure and function, endothelial dysfunction, and cytokine status, were identified in geriatric patients with COPD and AH who received short- or long-acting inhaled M-cholinolytics and steroids combined with perindopril monotherapy (10 mg/day; Prestarium, Servier Laboratories, France).Conclusion. The combination of COPD and AH was characterised by significantly different distribution of genotypes and alleles (TGFB1 gene rs1804470 allele and HHIP gene rs1828591 allele), in relation to geriatric age. Patients with the COPD and AH combination had more severe endothelial dysfunction, cytokine activation, and disturbed structure and function of peripheral vessels (distal-proximal type). There were significant differences in peripheral vascular remodelling parameters among elderly vs. very elderly patients with COPD and AH.

Polymorphism genes assay is of importance for estimation of predisposition to multifactorial diseases on population and individual level. We investigated apolipoprotein E polymorphism and its influence on a lipid metabolism in population of Novosibirsk city (the largest scientific and industrial centre of West Siberia). Polymorphism of apolipoprotein E (APOE) gene was studied in sample of inhabitants of Novosibirsk city aged 25‐64 years (n=611), in patients with nonfatal myocardial infarction (n=141), in patients with nonfatal stroke (n=167), in men with sudden cardiac death (n=250) and in long‐livers of the same region (n=97). A lipid profile depending on APOE genotypes was analyzed in a population and in a group of long‐livers of Novosibirsk. In male population 25‐64 years of age dynamics (changes) of frequencies APOE genotypes are not revealed. In comparison with frequencies of APOE genotypes in men is more senior than 83 years has appeared, that the frequency of a genotype ε3/ε4 has decreased 4 times, and the frequency of a genotype ε2/ε3 has increased 2 times. Among the persons of senile age and long‐livers, both men, and women the carriers of a genotype ε4/ε4 on APOE gene are not revealed. The highest level of total cholesterol in population of Novosibirsk is characteristic for a genotype APOE ε4/ε4. The introduction of genotyping of human apolipoprotein E in a population of Novosibirsk is expedient.