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Background: The taste sensitivity to phenylthiocarbamide (PTC) is one of the classical genetic markers in human studies. PTC is of great interest from the medical point of view since a number of associations of the taster status with human diseases have been found. The aim of our study was to evaluate the population structure of Ukraine in relation to PTC sensitivity.Methods: The study involved 533 people (78 males and 455 females) aged from 16 to 25 years. The PTC solution in the concentration of 0.13% was prepared according to the method of Harris and Kalmus. The participants of the study analyzed the taste of the filter paper impregnated with PTC. If the trial subjects tasted PTC as ''bitter'', ''very bitter'', ''bitterish'', the phenotype was defined as a taster. If the trial subject did not taste PTC (''no taste'', ''taste of paper''), he/she was referred to a non-taster.Results: The structure of the sample of the Ukrainian population studied in relation to the phenotypic and genotypic frequency associated with the phenylthiocarbamide sensitivity has been studied. It has been shown that in the population there are 22% of those who do not feel the taste of phenylthiocarbamide. Among males there are a few more non-tasters than among females, however, the differences are not significant. The frequency of the dominant and recessive allele of the phenylthiocarbamide sensitivity gene in the sample calculated on the basis of the Hardy-Weinberg equation is generally p T = 0.55 and q t = 0.45, respectively.Conclusions: Frequencies of alleles T and t obtained in the male and female population under research are very close to the frequencies of the same alleles in some populations of India. Data of this study supplement the currently available information in relation to the genetic structure of modern Ukrainian cities.

Aim:Fear is an ancient natural reaction of a human being to a threat and it is also an adaptive feature. Obsessive fear can transfer into phobias, which lead to a clinical problem. In spite of many studies done on fear, many questions are yet not clarified. In the former Soviet Union, research on human behaviour traits was mostly tabooed. The current research will fill some gaps on the ‘behavioural map’ of Ukraine in relationship to fear distributions in two successive generations of residents of Ukraine.Subjects and Methods:Eight hundred and sixty-seven residents of Ukraine, predominantly residents of Kharkov and Kharkov region participated in the study. All participants were distributed into groups of younger and older generations. Twenty-four emotional states of fear have been studied by Ivleva-Shcherbatyh questionnaire, developed and validated in Slavs samples.Results:The population analysis of 24 types of fear has shown that sex differences were found mostly among members of the younger generation. The average value of sex differences from the amplitude trait of variation made up approximately 20%. More significant differences between members of different generations have been found in females. The age dynamics of fears within each generation has been detected.Conclusions:The population analysis of fears in Ukraine has demonstrated that the strongest fears independently of the generation were related to diseases of relatives and to problems in the case of diseases of relatives.

ObjectivesFrom the first description by Leo Kanner [1], autism has been an enigmatic neurobehavioral phenomenon. The new genetic/genomic technologies of the past decade have not been as productive as originally anticipated in unveiling the mysteries of autism. The specific etiology of the majority of cases of autism spectrum disorder (ASD) is unknown, although numerous genetic/genomic variants and alterations of diverse cellular functions have been reported. Prompted by this failure, we have investigated whether the metabolomics approach might yield results which could simultaneously lead to a blood-based screening/diagnostic test and to treatment options. Methods Plasma samples from a clinically well-defined cohort of 100 male individuals, ages 2-16+ years, with ASD and 32 age-matched typically developing (TD) controls were subjected to global metabolomic analysis. ResultsWe have identified more than 25 plasma metabolites among the approximately 650 metabolites analyzed, representing over 70 biochemical pathways, that can discriminate children with ASD as young as 2 years from children that are developing typically. The discriminating power was greatest in the 2-10 year age group and weaker in older age groups. The initial findings were validated in a second cohort of 83 children, males and females, ages 2-10 years, with ASD and 76 age and gender-matched TD children. The discriminant metabolites were associated with several key biochemical pathways suggestive of potential contributions of increased oxidative stress, mitochondrial dysfunction, inflammation and immune dysregulation in ASD. Further, targeted quantitative analysis of a subset of discriminating metabolites using tandem mass spectrometry provided a reliable laboratory method to detect children with ASD. Conclusion Metabolic profiling appears to be a robust technique to identify children with ASD ages 2-10 years and provides insights into the altered metabolic pathways in ASD, which could lead to treatment strategies. ObjectivesTo uncover novel traits associated with nicotine and alcohol use genetics, we performed a phenome-wide association study in a large multi-ethnic cohort. Methods We investigated 7,688 African-Americans (AFR), 1,133 Asian-Americans (ASN), 14,081 European-Americans (EUR), and 3,492 Hispanic-Americans (HISP) from the Women's Health Initiative, analyzing risk alleles located in the CHRNA5-CHRNA3 locus (rs8034191, rs1051730, rs12914385, rs2036527, and rs16969968) for nicotine-related traits and ADH1B (rs1229984 and rs2066702) and ALDH2 (rs671) for alcohol-related traits with respect to anthropometric characteristics, dietary habits, social status, psychological circumstances, reproductive history, health conditions, and nicotine-and alcohol-related traits. ResultsThe investigated loci resulted associated with novel traits: rs1229984 were associated with family income (p=4.1*10 −12 ), having a pet (p=6.5*10 −11 ), partner education (p=1.8*10 −10 ), "usually expect the best" (p=2.4*10 −7), "felt calm and peaceful" (p=2.6*10 ), and num...

The urgency of effective and safe pharmacotherapy is determined by a high incidence of side effects of medicines, genetic polymorphism is one of their causes. For its assessment the genetic testing is conducted on the basis of drug prescribing.Aim. To study the subjective assessment of the causes of drug side effects among the population of Ukraine for estimating the potential consumers of genetic tests.Materials and methods. A specially designed questionnaire was used as an analysis tool. The study involved 3143 respondents.Results and discussion. It was shown that the most frequent subjective causes of side effects according to the respondents were the unread patient information leaflets and misunderstanding of them, possible genetic traits of a person, the simultaneous use of several drugs, drug faking, etc.Conclusions. It is necessary to develop the algorithm for implementation of the system of measures aimed at raising awareness of the potential means of reducing the side effects of drugs, in particular carrying out a genetic testing.Key words: adverse drug reactions; Ukraine; pharmacogenetics; pharmacogenetic testing; personalized medicine Суб'єктивна оцінка причин виникнення побічних ефектів лікарських засобів у населення УкраїниАктуальність ефективної та безпечної фармакотерапії обумовлена високою частотою побічних ефектів лі-карських засобів (ЛЗ), однією з причин яких є генетичний поліморфізм. Для його оцінки проводять генетичне тестування, на підставі якого виконуються лікарські призначення.Мета роботи -вивчення суб'єктивної оцінки причин виникнення побічних ефектів ЛЗ у населення України для приблизної оцінки потенційних споживачів генетичних тестів.Матеріали та методи. Як інструмент аналізу була використана спеціально розроблена анкета. У дослідженні взяли участь 3143 респонденти.Результати та їх обговорення. Показано, що найчастіше суб'єктивними причинами розвитку побічних ефек-тів, на думку респондентів, було: неознайомлення і нерозуміння вивчення інструкції по застосуванню ЛЗ, мож-ливі генетичні особливості, застосування декількох препаратів одночасно, фальсифікація препаратів.Висновки. Необхідна розробка алгоритму з впровадження системи заходів, спрямованих на підвищення ін-формованості про потенційні засоби зниження побічних ефектів ЛЗ, зокрема, проведення генетичного тестування.Ключові слова: побічні реакції; Україна; фармакогенетика; фармакогенетичне тестування; персоналізована медицина М. Н. Кобец Субъективная оценка причин возникновения побочных эффектов лекарственных средств у населения УкраиныАктуальность эффективной и безопасной фармакотерапии обусловлена высокой встречаемостью побоч-ных эффектов лекарственных средств (ЛС), одной из причин которых является генетический полиморфизм. Для его оценки проводят генетическое тестирование, на основании которого выполняются лекарственные назначения.Цель работы -изучение субъективной оценки причин возникновения побочных эффектов ЛС у населения Украины для примерной оценки потенциальных потребителей генетических тестов.Материалы и методы. В качестве...