For the metagenomic characterization of potential taxonomic and functional diversity of microorganisms associated with polycystic ovary syndrome (PCOS) in women, we surveyed five women with PCOS and collected samples of feces, saliva, and serum. After quality processing, we have obtained from 915,594 to 3,880,379 reads; these 16,693 sequences had ribosomal RNA genes, 2,091,990 sequences contained predicted proteins with known functions, and 3,750,261 sequences had predicted proteins with unknown functions. Host DNA accounted for ca. 0.03% and less in datasets of fecal samples, from 1.41 to 24.94% in saliva samples; the remaining sequences were attributed to archaeal, bacterial, or viral DNA. In serum, from 38.18 to 75.77% were characterized as fragments of the human genome, but the remaining sequences were unidentified. Among microbes, a total of one archaeal and eight bacterial phyla were revealed. Viral DNA was detected in several fecal and one saliva sample and was classified as C2likevirus, Flavivirus, and Streptococcus bacteriophage. The metagenome sequence data were deposited at NCBI SRA as BioProject No. PRJNA625611.

Background. To date, there are many pharmacogenetic algorithms for selecting the dose of warfarin. However, there is very little information about the predictive accuracy of the algorithms. We decided to evaluate the predictive accuracy of the Gage algorithm, using a calculator, located on the web site (http://www.warfarindosing.org) in two ethnic groups (Caucasians and Asians), living in Russia.Aim. To compare the actual warfarin dose (AWD) to the calculated warfarin dose (CWD), using the algorithm in two ethnic groups taking warfarin.Materials and methods. We included 114 patients (66 Caucasians and 48 Asians): the mean age was60.91 ± 12.34 years; 61 (53.51 %) men, and 53 (46.49 %) women. The comparative characteristics of the algorithm were tested using the mean absolute error (MAE) between AWD and CWD, and percentage of patients, whose CWD fell within 20 % of AWD (percentage within 20 %). Genotyping for CYP2C9*2, CYP2C9*3, CYP4F*2 and VKORC1 was performed by real-time polymerase chain reaction (RT-PCR) method using Pharmacogenetics Warfarin reagent kits (DNA technology, Russia).Results. The Gage algorithm produced the predictive accuracy with MAE = 1.02 ± 0.16 mg/day and percentage within 20 % for Asian patients was 39.6 %. We obtained MAE = 1.33 ± 0.16 mg/day and percentage within 20 % for Caucasian patients was 40.9 %. In two ethnic groups (Caucasians and Asians) of the Russian population, overall performance of warfarin pharmacogenetic dosing by the Gage algorithm was similar.Conclusions. Despite the performance limitation of the current warfarin pharmacogenetic dosing Gage algorithm, constant international normalized ratio monitoring is important.

With the development of molecular genetics, the field of personalized medicine based on genetic data has been growing at a phenomenal pace. Genetic tests can identify health risks, ancestry, and genealogy, as well as the prediction of drug responses. However, very limited research exists about the marketing practices of companies, which promote and sell DNA ancestry and health-related genetic tests directly to the public.Aim. To evaluate the awareness and attitude about genetic testing in the population of a large industrial city in Russia (on the example of Irkutsk).Materials and methods. A total of 305 respondents – 265 of them were students of higher educational institutions of Irkutsk. The study was conducted on condition of anonymity. The questionnaire was available on the Internet on the basis of the Google Forms service. All basic concepts were explained to the participants during the survey.Results. 94.1 % are interested in conducting genetic testing on a commercial basis. Of the total number of survey participants, 72.8 % expressed a desire to undergo the analysis “Hereditary predisposition to diseases”, 61 % – “Monogenic diseases”, 52.1 % – “Ethno”. In addition, out of the total number of respondents surveyed, 36.7 % want to undergo genetic testing for research: features of metabolism and food intolerance “Diet”, 22 % – susceptibility to injuries and speed of recovery of physical form “Sport”, 18 % – to hereditarily determined susceptibility to drugs “Pharmacy”. It follows from the answers that the greatest interest among the surveyed people is the determination of predisposition to cardiovascular diseases – 72.5 %, to Alzheimer’s disease – 48.3 % and diabetes mellitus – 40.3 %.Conclusion. The results obtained indicate an interest in the study of predisposition to cardiovascular and neurodegenerative diseases. There is a high need to analyze the assessment of the clinical usefulness of genetic research, to assess the impact of research results on human behavior and the system of regulation of genetic testing in healthcare in general.

No abstract

Эндокринологические и метаболические нарушения, проявляющиеся у женщин с синдромом поликистозных яичников (СПКЯ), оказывают комплексное воздействие на эндометрий, приводя к низкой частоте имплантации эмбриона, увеличению частоты самопроизвольных выкидышей и бесплодию. Данный обзор даёт общее представление о молекулярных механизмах функционирования эндометрия у женщин с данной патологией. Проведённый анализ литературных данных показывает, что у женщин с СПКЯ наблюдаются изменения эффектов эстрогена и прогестерона в эндометрии, нарушение пространственной и временной экспрессии стероидных рецепторов. Изменения уровня экспрессии ERα и соотношения ERα : ERß считаются основными факторами, лежащими в основе ряда гинекологических заболеваний, включая нарушение фертильности, гиперплазию и карциному эндометрия. Отсутствие индуцированной прогестероном PR-опосредованной пролиферации стромальных клеток может быть следствием резистентности к прогестерону, проявляющейся у женщин с СПКЯ, но не влияет на повышенную пролиферацию эпителиальных клеток. Дисбаланс в жировой ткани усугубляет повышение уровня эстрогенов и его патологические эффекты. Кроме того, ожирение и СПКЯ индуцируют провоспалительную среду, увеличивая изменения в сигнальном пути инсулина. Гиперандрогения и гиперинсулинемия приводят к нарушению процессов клеточной пролиферации и апоптоза, влияют на трансдукцию инсулинового сигнала и метаболизм глюкозы, нарушая энергетический гомеостаз эндометрия. Воспаление и окислительный стресс в эндометрии тесно связаны между собой и приводят к усилению патологических изменений в эндометрии. Выявление молекулярных механизмов, лежащих в основе инициации и развития гиперплазии, а также снижения фертильности эндометрия в условиях СПКЯ, даст возможность разработать новые методы профилактики, диагностики и лечения пациенток с риском развития рака эндометрия и бесплодия.