Ancient genomic time-transect across the Central Asian Steppe sheds new light onto the origins and demise of the Scythians.

The long-term storage of unutilized pesticides raised new problems of long-term environmental contamination. The study presents the results of surveying 151 individuals in 7 villages living close to pesticide-contaminated localities. All individuals have been surveyed concerning their consumption habits and lifestyle characteristics. An assessment of the general exposure risks of the local population was carried out using the analysis of pollutants in food products and the average levels of their consumption in the region. The cohort risk evaluation revealed that the greatest risk was associated with the regular consumption of cucumbers, pears, bell peppers, meat, and milk. The new model to estimate individual risks of long-term pesticide pollution was proposed as a calculation of the combined action of 9 risk factors, including individual genotypes, age, lifestyle, and personal pesticide consumption rates. The analysis of the predictive ability of this model showed that the final score for individual health risks corresponded to the development of chronic diseases. A high level of chromosomal aberrations was evidenced for individual genetic risk manifestations. The combined influence of all risk factors revealed contributions of 24.7% for health status and 14.2% for genetic status, while other impacts go to all unaccounted factors.

The association of genetic polymorphisms with the individual sensitivity of humans to the action of pesticide pollution is being actively studied in the world. The aim of this study was a molecular epidemiological analysis of candidate polymorphisms of genes involved in pesticide metabolism, detoxification, and antioxidant protection. Some of the selected polymorphisms also relate to susceptibility to cancer and cardiovascular, respiratory, and immune system diseases in individuals exposed to pesticides for a long time. For a case-control study of a unique cohort of people exposed to organochlorine pesticides for 10 years or more were chosen, a control cohort was selected that matched with the experimental group by the main population characteristics. PCR-PRLF and genome-wide microarray genotyping (GWAS) methods were used. We identified 17 polymorphisms of xenobiotic detoxification genes and 27 polymorphisms of antioxidant defense genes, which had a significantly high statistical association with the negative impact of chronic pesticide intoxication on human health. We also found 17 polymorphisms of xenobiotic detoxification genes and 12 polymorphisms of antioxidant defense genes that have a protective effect. Data obtained added to the list of potential polymorphisms that define a group at high risk or resistant to the negative effects of pesticides.

Autism spectrum disorders (ASDs) are heterogeneous diseases that are triggered by a number of environmental and genetic factors. The aim of the current study was to investigate an association of the rs1799836 genetic variant of the neurotransmitter-related gene MAOB with ASDs. In total, 262 patients diagnosed with ASDs and their 126 healthy siblings were included in the present study. All individuals represented a Kazakhstani population. The distributions of the rs1799836 genotype were in accordance with the Hardy-Weinberg equilibrium among both cases and controls. No statistically significant differences were found in the allelic distributions of this polymorphism between ASD and control subjects (A/G: for males OR=1.11, 95% 0.59-2.06, p=0.75; for females OR=1.14, 95% 0.70-1.86, p=0.76). However, the increased score in the overall CARS was significantly associated with the A allele of rs1799836 MAOB for females (OR=2.31, 95% 1.06-5.04, p=0.03). The obtained results suggest that the rs1799836 polymorphism of the MAOB gene may have little contribution to the development of ASDs but may be involved in pathways contributing to ASD symptom severity in females. Further large-scale investigations are required to uncover possible relationships between rs1799836 MAOB and ASD progression in a gender-specific manner and their possible application as a therapeutic target.

The purpose of this study is to analyze the associations of gene polymorphisms involved in the pathogenesis of chronic diseases that develop against the background of the toxic effects of pollutants in the environment. The study sample for the research was a cohort of people who had been exposed to pesticide pollution for a long time, taken from villages in the Almaty region, on the territory of which destroyed warehouses of pesticides prohibited for use were discovered. Analysis were performed using Genome-wide association study (GWAS) method. A total of 297,397 SNPs were analyzed, 6 of which were found to be significantly associated with the negative effects of chronic exposure to pesticides.

Около 91% населения планеты проживает в регионах с уровнем загрязнения воздуха, превышающим нормы Всемирной организации здравоохранения. Воздействие загрязнённого воздуха признано значимым фактором риска бронхиальной астмы. В Казахстане уровень заболеваемости БА продолжает расти, и ухудшение экологической обстановки вносит значительный вклад в эту тенденцию. Исследования на близнецах показали, что наследуемость БА достигает 70%. Наряду с этим важную роль играют и внешние факторы, включая качество воздуха. Однонуклеотидные полиморфизмы (SNPs), выявляемые методом GWAS, помогают установить генетическую предрасположенность к БА и оценить влияние факторов окружающей среды, таких загрязнителей воздуха как PM2.5, CO и SO2. Целью настоящего исследования является анализ однонуклеотидных полиморфизмов, связанных с бронхиальной астмой, и их взаимодействия с загрязнителями атмосферного воздуха у жителей города Алматы. В исследование включены пациенты с БА и здоровые добровольцы; проведено микрочиповое генотипирование и сбор данных о загрязнении воздуха в течение семи месяцев. Наиболее выраженные защитные ассоциации были выявлены для rs3117098 (TSBP-AS1, OШ=0.39, p=0.000), тогда как rs2844510 (LINC01149, OШ=2.00, p=0.047) и два полиморфизма в HLA-DRA/TSBP1-AS1 (rs9268516, rs3763309) ассоциировались с повышенным риском, причём воздействие CO значительно усиливало генетический эффект для rs3763309 (OШ=2.96, p=0.002) и rs9268516 (OШ=2.10, p=0.004), тогда как взаимодействия с PM2.5 и SO₂ оказались статистически значимыми, но слабыми. Это первое исследование, направленное на выявление ассоциации между генетическими вариациями, связанными с БА и концентрацией загрязнителей воздуха в Алматы с акцентом на казахское население. Полученные данные позволят углубить понимание механизмов развития БА и способствовать развитию персонализированных подходов к диагностике и профилактике. Ключевые слова: Бронхиальная астма; загрязнение среды; однонуклеотидный полиморфизм; генотипирование.