Evaluation of effect genome variants and loci of positive selection in the Lithuanian population

In order to ascertain the genome factors that determine the uniqueness of the population, it is important to identify and study (beneficial and harmful) genome variants and population-specific genome loci affected by positive selection. This study evaluated the adaptive effects (morbidity, response to experienced stress and effects of ionizing radiation) of genome variants that may be both beneficial and harmful – the so-called effect genome variants – in the cohorts of the general Lithuanian population and Lithuanian clean-up workers of Chernobyl nuclear disaster. In order to evaluate the possible protective effect of the genome variants identified during the association analysis in the general Lithuanian population cohort, it was chosen to use not only in silico analysis tools, but also to perform positive selection analysis of variant-specific genome loci. It is a new research strategy that combines association with functional in silico and positive natural selection analyses. In this study, genome loci under positive selection were identified in the unique cohort of the Lithuanian clean-up workers of Chernobyl nuclear disaster for the first time. These loci potentially determine the survival rates of nuclear disaster clean-up workers and their adaptive qualities to extreme conditions as well as the lifelong effects of the Chernobyl nuclear disaster.