Methods for Functional Characterization of Genetic Polymorphisms of Non-Coding Regulatory Regions of the Human Genome (Review)

Currently, numerous associations between genetic polymorphisms and various diseases have been characterized through Genome-Wide Association Studies. The majority of clinically significant polymorphisms are localized in non-coding regions of the genome. While modern bioinformatic resources make it possible to predict molecular mechanisms that explain the influence of non-coding polymorphisms on gene expression, such hypotheses require experimental verification. This review discusses the methods for elucidating the molecular mechanisms underlying the dependence of disease pathogenesis on specific genetic variants within non-coding sequences. A particular focus is on the methods to identify the transcription factors with binding efficiency contingent upon polymorphic variations. Despite remarkable progress in the bioinformatic resources enabling the prediction of the impact of polymorphisms on disease pathogenesis, the imperative for experimental approaches to this inquiry still persists.