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ORIGINAL RESEARCH

Gene geography of pharmacogenetic DNA markers in the indigenous population of Central Russia (cardiovascular diseases, tuberculosis)

Received: 2026-09-01 Accepted: 2026-10-04 Published online: 2026-10-23
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A broad range of pharmacogenes identified when analyzing continental datasets characterizes the world's population as a whole. As for local regions, not all DNA markers from the general palette of pharmacogenes can be equally important for pharmacogenetics. The study aimed to identify the regionally important pharmacogenes. Frequencies of 24 pharmacogenes of cardiovascular diseases (CVDs, 1541 genomes) and seven pharmacogenes of tuberculosis (TB, 1437 genomes) in the indigenous population of Central Russia were determined. A total of 19 populations of 10 ethnic groups were included in the analysis: Bashkirs, Komi-Permyaks, Mari, Mishar Tatars, Kazan Tatars, Udmurts, Chuvash people, Moksha, Shoksha and Erzya of Mordovia, nine populations of Russians.  Gene geographic maps of the spread of pharmacogenes across the region were plotted; these were subjected to the cartographic and statistical analysis by the principal components and genetic distance methods, correlation analysis. It has been shown that in the studied set of pharmacogenes, only a quarter of DNA markers (five CVD; two TB) play a key role in the genetic basis of the CVD and TB response to drugs in this region. There was no correlation between the spread of CVD and TB DNA markers (correlation r = 0). The history of the formation of the gene pools of the Central Russian population proved to be the leading factor for the CVD pharmacogenes. This conclusion has been confirmed by the highest correlation (r = 0.9) between DNA markers of CVDs and selectively neutral DNA markers (eye color, hair color, Y-haplogroups) reflecting the region's population ethnogenesis. The lack of patterns in the spread of TB pharmacogenes suggests predominance of social and medical and sanitary factors. With insufficient funding and the inability to identify individual genotypes, pharmacogenetics can focus on the regionally important pharmacogenes.

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