Statement of the Problem. The incidence of prostate cancer (PCa) due to increased life expectancy is steadily increasing. Currently, a list of polymorphisms associated with the risk of tumors, their course and treatment response has been determined, but there is no convincing evidence for their clinical use. Objective is to study the frequency of occurrence of polymorphisms in healthy men and patients with prostate cancer in the Kazakh population. Materials and methods. Two groups of Kazakh - patients with prostate cancer (n = 480) and control (n = 479) were recruited during 2017-2019. DNA from blood samples were genotyped with 120 SNPs chip using qPCR (QuantStudio 12K, ThermoFisher). Genotype annotation was performed with ThermoFisher cloup.
Cardiovascular diseases (CVD) and malignant neoplasms (MN) are the main reasons of 70 % of death because of diseases in the developed countries. Success in treating MN has led to increased life expectancy of patients and accordingly increased the number of comorbide patients. It also should be noted that a great number of patients with malignant neoplasms or oncopathology have cardiovascular disease in their anamnesis, and as it was discovered, this disease is the main reason of death in patients recovered from oncological disease. The rate of the risks for the patient according to characteristics of the diseases and treatment, and close connection with oncologists are vitally necessary to determine the optimal strategies of treatment in this population. According to the above mentioned, the actuality of treatment cardiovascular pathology and prevention cardiotoxicity connected to chemotherapy of MN have become obvious.
The use of modern chemotherapeutic drugs in the treatment of cancer is associ-ated with various side effects. Cardiovascular complications include various heart rhythm disorders, heart failure, arterial and venous thrombosis of vari-ous localizations. This review article describes the pathophysiological features of various groups of chemotherapeutic drugs that are actively used in everyday practice, which lead to the occurrence of acute coronary syndrome. It also describes the features of percutaneous coronary interventions in patients undergoing chemotherapy.
Introduction. A human metagenome is 100 times larger than its own genome and determines many physiological processes in our body. The metagenome has specific characteristics for each population, which determines the markers of diseases, the course and ways of preventing and treating pathologies. Materials and methods. The studies were carried out according to the procedures of IHMC (International Human Microbiome Consortium) standards. Results. These studies of human metagenome are the first among the Central Asian population. Comparison of Kazakh samples of the gut microbiome with samples of other populations demonstrated the main differences and similarities and found that the microbiome depends on nutrition, climatic and geographical features, lifestyle, social factors and age. We compared the distal gut microbiota of 149 Kazakhstan individuals aged 25 - 65 years. Our studies have shown that microbiomes are different depending on climatic and geographical features, lifestyle, social factors and age. mOTU analysis showed that a microbiome core of our population form by the genera Faecalibacterium, Bacteroides, Dorea, Collinsella, Oscillibacter, Ruminococcus, Subdoligranulum, Coprococcus, Escherichia, Eberichia, Eberichia Roseburia, Parabacteroides and Prevotella. The microbiome core does not change throughout life, and their ratio determines the human enterotype, that determine the risks of developing microbiome-associated diseases, especially the metabolism of drug substances and dietary features to maintain health. The Kazakh samples mostly belong to Enterotype 3. As well as at the mOTU level we found significant (Spearman FDR 0.05) associations to many categories of nutrients, which were studied using FFQ questionnaire. Due to study, the functionality of bacterial genes using the KEGG database were defined the 44 KEGG pathways with significant differences depending on clinical and laboratory characteristics, as well as an anamnesis. Conclusion The main characteristics of the gut metagenome of Kazakhstan individuals were determined. Крспе Адамны метагеномы зн геномынан 100 есе лкен жне денемздег кптеген физиологиялы процестерд анытайды. Метагеноманы р популяцияа тн сипаттамалары бар, олар ауруларды белглерн, патологияны алдын-алу жне емдеу жолдарын анытайды. Материалдар мен дстер. Зерттеулер IHMC (Халыаралы адам микробиомасы консорциумы) стандарттарына сйкес жргзлд. Нтижелер. Бл зерттеулер Орта Азияда популяция микробиомын зерттеу бойынша дниежзндег алашы зерттеу. шек микробиомыны азастанды лглерн баса популяциялармен салыстыру негзг айырмашылытар мен састытарды крсетт жне микробиомны таматануа, климатты жне географиялы ерекшелктерне, мр салтына, леуметтк факторлара, жасына байланысты екендг аныталды. Бз 25 пен 65 жас аралыындаы 149 азастандыты дистальды шект микробиоталарын салыстырды. Бзд зерттеулермз микробиомаларды климатты жне географиялы ерекшелктерге, мр салтына, леуметтк факторлара, жасына байланысты ерекшеленетнн крсетт. мOTU дегейндег талдау микробиомны ядросын анытауа ммкндк берд, оны рамына келес туыстар кред: Faecalibacterium, Bacteroides, Dorea, Collinsella, Oscillibacter, Ruminococcus, Subdoligranulum, Coprococcus, Escherichia, Eberichia, Eberichia Roseburia, Parabacteroides жне Prevotella Микробиомны ядросы мр бойы згермейд жне денсаулыты сатау шн ауруларды даму аупн анытайтын, дрлерд метаболизм мен таматану ерекшелктерн анытайтын адамны энтеротипн райды. азастанды лглер негзнен энтеротип 3-ке енед. Сонымен атар, MOTU дегейнде FFQ сауалнамасы арылы зерттелген кптеген оректк заттарды санаттары бар маызды ауымдастытар табылды (Spearman FDR 0.05). KEGG деректер базасын олдана отырып, бактериалды гендерд функционалдыын зерттеуге сай клиникалы жне зертханалы сипаттамаларына, сондай-а медициналы тарихына байланысты 44 KEGG жолы айтарлытай айырмашылытары бар екендг аныталды. орытынды. азастандытарды шек метагеномыны негзг сипаттамалары аныталды. Введение. Метагеном человека в 100 раз превышает собственный геном и определяет многие физиологические процессы в нашем организме. Метагеном имеет специфические характеристики для каждой популяции, что определяет маркеры заболеваний, течение и пути профилактики и лечения патологий. Материалы и методы. Исследования проведены согласно процедурам стандартам IHMC (International Human Microbiome Consortium). Настоящее исследование является первым в мире по изучению микробиома популяции Центральной Азии. Сопоставление казахских образцов кишечного микробиома с образцами других популяций, продемонстрировали основные отличия и сходства и установили что микробиом зависит от питания, климато-географических особенностей, образа жизни, социальных факторов, возраста. Мы сравнили микробиоту дистальной части кишечника 149 казахстанцев в возрасте от 25 до 65 лет. Результаты. Наши исследования показали, что микробиомы различаются в зависимости от климатических и географических особенностей, образа жизни, социальных факторов, возраста. Анализ на уровне mOTU позволил определить микробиомное ядро, которое ввключает следующие роды Faecalibacterium, Bacteroides, Dorea, Collinsella, Oscillibacter, Ruminococcus, Subdoligranulum, Coprococcus, Escherichia, Eberichia, Eberichia Roseburia, Parabacteroides и Prevotella. Микробиомное ядро не изменяется в течение жизни, и формирует энтеротип человека, который определяет риски развития заболеваний, метаболизм лекарственных веществ и особенности питания для поддержания здоровья. Казахстанские образцы в основном относятся к энтеротипу 3. Кроме того, на уровне mOTU мы обнаружили значимые (Spearman FDR 0,05) ассоциации со многими категориями питательных веществ, которые были изучены с помощью опросника FFQ. В связи с изучением функциональности бактериальных генов с использованием базы данных KEGG были определены 44 пути KEGG со значительными различиями, в зависимости от клинических и лабораторных характеристик, а также от анамнеза. Заключение. Определены основные характеристики кишечного метагенома казахстанцев.
Each tumor is a combination of several dozen to several hundred potentially highly functional somatic mutation variants, along with a much larger number of potentially highly functional germ mutation variants. The combined action of all gene variations leads to the development and clinical diversity of malignancies. Their changes can lead to violations of gene expression and regulation and the appearance of proteins with altered functional properties. Polymorphism at the phenotype level is explained by the simultaneous existence of both a wild-type allele and a series of mutant alleles in the same population. Mutations change the gene product, and as a result, the functions of the gene product are changed. This can lead to changes in the phenotype. Materials and methods: Markers are studied (single-nucleotide polymorphisms) in people with malignant neoplasms breast, associated with a metabolic syndrome, and also in representatives of test groups (malignant neoplasm without metabolic syndrome's), allowing predict association development of disease. The results are received thanks to examining of 250 patients. Results: The association of polymorphism's rs11868035 (p = 0.01481525) based on 5 inheritance models polymorphisms with a risk of development breast cancer glands in patients with a metabolic syndrome in Ka-zakh populations was identified.
Purpose of the review: The study of literature data relating to the replacement of nucleotides in DNA with the risk of development, course and prognosis of breast cancer. Materials and methods. A literature review was conducted in electronic databases included in PubMed/Medline, The Cochrane Library. The depth of search was 10 years. Results. The data on the role of single nucleotide polymorphisms in the development, course, prognosis and response to treatment for breast cancer in individual populations was studied. The research results show that the replacement of nucleotides in DNA underlies the differences in susceptibility to the development of diseases, the effectiveness of the action of medicines. Conclusion. The determination of single nucleotide polymorphisms can reveal a hereditary predisposition to various multifactorial diseases (including cancer), and to predict individual sensitivity to pharmacological medicines. This can help physicians choose the most effective treatment for breast cancer patients.
Purpose of the review: To review relevant publications on the study results of gene polymorphisms in hypertension.Methodology: A search of relevant publications was conducted in electronic databases including Embase, PubMed/Medline, Science Direct, Ebscohost, Springer Link, The Cochrane Library, Web of Knowledge (Thomson Reuters), and eLibrary. The depth of search for publications was 16 years (2002-2018). More than 30 publications were selected and reviewed as analytical material for this article. The inclusion criteria were meta-analyzes, systematic reviews, full-text articles published earlier in 2002, the results of randomized studies, research reports with evidence base.Results and conclusion. An analysis of relevant publications indicated that despite the many ongoing studies on the polymorphisms of genes involved in the renin-angiotensin-aldosterone system in hypertension, the results of these studies are contradictory. Sample size, the specific population and other external factors influence study results. Each population has its own characteristics that affect the result of the study. When assessing the association between gene polymorphisms and the risk of hypertension, it is necessary to take into account changes in the genes with the geographical features of the studied population. In addition, an example of such a study would be the Kazakh population.