ISSN Print 2500–1094
ISSN Online 2542–1204
BIOMEDICAL JOURNAL OF PIROGOV UNIVERSITY (MOSCOW, RUSSIA)
ORIGINAL RESEARCH
Cartographic atlas of frequency variation for 45 pharmacogenetic markers in populations of Russia and its neighbor states
About authors
1 Bochkov Research Center for Medical Genetics, Moscow, Russia
2 Biobank of North Eurasia, Moscow, Russia
3 Vavilov Institute of General Genetics, Moscow, Russia
4 Lomonosov Moscow State University, Moscow, Russia
5 Kuban State Medical University, Krasnodar, Russia
6 Russian Medical Academy of Continuous Professional Education, Moscow, Russia
Correspondence should be addressed: Elena V. Balanovska
Moskvorechie, 1, Moscow, 115478; ur.liam@aksvonalab
About paper
Funding: the study was carried out under the State Assignment of the Russian Ministry of Science and Higher Education for the Research Center for Medical Genetics and Vavilov Institute of General Genetics.
Acknowledgement: the authors thank the donors for their participation, the Institute of General Genetics for the access to the database of genotypes, the Center for Precision Genome Editing and Genetic Technologies for Biomedicine of Pirogov Russian National Research Medical University (Moscow, Russia) for the opportunity to usemolecular genetic technologies.
Author contribution: Balanovska EV — data analysis, manuscript draft; Balanovsky OP — study design and supervision; Petrushenko VS — bioinformatic analysis; Koshel SM — map analysis, manuscript editing; Chernevskiy DK, Pocheshkhova EA — tabular data analysis; Mirzaev KB, Abdullaev SP — description of pharmacogenetic markers.
Compliance with ethical standards: the study was approved by the Ethics Committee of the Research Center for Medical Genetics (Protocol № 3/1 dated September 5, 2018) and carried out on the samples obtained during the population genetic study of the gene pools of ethnic groups from Russia and its neighbor states. The donors gave voluntary informed consent to participate.
Received: 2020-11-06
Accepted: 2020-11-22
Published online: 2020-12-19
|
Fig. 1. Maps of frequency distribution for pharmacogenetic markers following the clinal variation pattern: VKORC1 (rs9923231-T(A)) (A); COMT (rs4680-A) (B); CES1 (rs2244613-C) (C); IFNL3 (rs8099917-C) (D)
Fig. 2. Maps of frequency distribution for pharmacogenetic markers following the uniform distribution pattern: CYP2C9 (rs1057910-C) (A); ITGB3 (rs5918-G) (B) MTFHR (rs1801131-С) (C); ABCB1 (rs1045642-G) (D)
Fig. 3. Maps of frequency distribution for pharmacogenetic markers following the focal variation pattern: Factor II (rs1799963-А) (A); Factor V Leiden (rs6025-А) (B); TPMT (rs1800460-А) (C); CYP2C19 (rs4986893-А) (D)
Table 1. Characteristics of the studied populations
Note: * — the population of Northern Europe is represented by 3 dots (Germany, Poland and Sweden).
Table 2. Genetic variation of 45 pharmacogenetic markers across North Eurasia and its neighbor states
Table 3. Characteristics and pharmacogenetic significance of 12 ADME markers shown in Fig. 1–3
