Creation of Cartographic atlas of 45 pharmacogenetic markers prevalent in the population of Russia and neighboring countries

A working version of the pharmacogenetic atlas was created, which provided a systematic collection of genogeographic maps of significant pharmacogenetic DNA markers prevalent all over Russia and neighboring countries. 45 markers (ADME genes; genes encoding pharmacodynamic drug targets; genes encoding components of the hemostasis system) were selected from several data sets obtained in population genetic studies using genome-wide SNP-marker panels and genotyped in total for 2197 samples. Their frequencies in 50 populations were determined, including information on 137 ethnic and sub-ethnic groups.

The pharmacogenetic atlas of the population of Russia and neighboring countries showed three main patterns of spatial variability. The pattern of clinal variability - a gradient change in frequencies along the east-west axis - unites pharmacogenetic markers that follow the main pattern of variability of the entire gene pool of the Northern Eurasia population (13% of the atlas maps). The uniform distribution pattern highlights a group of markers with their average frequency common to the majority of Russian regions (27% of the atlas maps). At the same time, this group maps identifies regions that differ from the general trend. The pattern of "focal" variability combines pharmacogenetic markers common only to a certain ethnic group and absent in other regions (60% of the atlas maps).

The Atlas shows that average frequency of the marker and information on its occurrence in separate populations cannot indicate to the type of its spatial prevalence. A genogeographic map is required to identify the pattern of variability.

E.V. Balanovska, V.S. Petrushenko, S.M. Koshel, E.A. Pocheshkhova, D.K. Chernevsky, K.B. Mirzaev, Sh.P. Abdullaev, O.P. Balanovsky. Cartographic atlas of 45 pharmacogenetic markers prevalent in the population of Russia and neighboring countries // Bulletin of the Russian State Medical University, 2020 DOI: 10.24075/vrgmu.2020.080
https://vestnik.rsmu.press/archive/2020/6/12/abstract?lang=ru