Oleksyk, Taras KShchubelka, KhrystynaBattistuzzi, FabiaRaffel, Thomas2024-09-252024-09-252023-01-01https://hdl.handle.net/10323/18156Ukraine, the second-largest country in Europe, has a rich history characterized by migrations, epidemics, famines, wars, and occupations, all of which have contributed to the formation of the modern Ukrainian population. However, the genetic composition of Ukraine remains understudied. Previous population genetic studies have largely overlooked the unique genetic makeup of Ukraine due to lack of publicly available genomic data. Yet, recent global assessments of genome diversity have highlighted the presence of numerous endemic variants, underscoring the significance of investigating genetic variation in underrepresented regions like Eastern Europe and, specifically, Ukraine. Such research is vital in the context of worldwide clinical trials and the development of personalized medicine. Local populations, shaped by their distinct histories, harbor a wealth of unexplored genomic variation, which may impact drug response, influence the risk of common and rare diseases, and shape lifestyle adaptations.Comprehensively understanding the genetic makeup of specific populations facilitates more effective identification of genetic markers for disease gene mapping, including family linkage and genome-wide association studies. These investigations aim to uncover susceptibility genes or loci for both Mendelian and complex diseases. Therefore, in this discovery-based study, our objective is to characterize the extensive genetic variation of medically relevant alleles in contemporary Ukraine across various levels of population structure: within major regions of Ukraine, and among the multiethnic population of Transcarpathia. Additionally, we will explore the relationship between lactose persistence genotypes and phenotypes, as well as the genetic factors underlying global developmental delay and intellectual disability in Ukraine.Genome diversityIntelectual disabilityLactase persistenceUkraine