Population biobank as a basis for determining spatial variation of clinically relevant pharmacogenetic biomarkers of cardiovascular diseases

Abstract

The introduction of pharmacogenetic tests among the Russian population faces a fundamental limitation  — pronounced genetic differences between populations. The genetic geography of pharmacogenetic markers of deoxyribonucleic acid (DNA) helps to remove these limitations.Aim. To reveal the spatial variation of the gene pools of the indigenous European Russian population in terms of DNA markers that are significant for the pharmacotherapy of cardiovascular diseases (CVDs) using the population biobank collections.Material and methods. A total of 3170 samples from 61 populations of the Biobank of Northern Eurasia, which represents the gene pools of the indigenous Eastern Europe population, were studied using two pharmacogenetic DNA marker arrays as follows: 60 most significant markers and 24 markers associated with CVDs. Using the multivariate statistics and genetic geography, a comparison of gene pool variation was made.Results. A cartographic atlas has been created that includes maps of the distribution among the Eastern Europe population of 24 pharmacogenetic CVD markers. These cartographic models allow various specialists to analyze patterns in the distribution of pharmacogenetic markers. General patterns are supplemented by regional studies in  the  North Caucasus, the Cisurals and the Russian Plain, which identify population groups with similar pharmacogenetic status. For each region, a comparison of gene pool variation for two arrays of above-mentioned DNA markers was made.Conclusion. The created atlas is the basis for the development of pharmacogenetic studies conducted by genetic geography methods using a single panel of markers and representative samples provided by population biobanks. The reliability of the results is ensured by a detailed genealogical and population annotation of each biobank sample and representative samples from the populations.