Generate QR code
Open Access
Subscription Access
The genetic landscape of human adaptation to extreme environmental conditions: correlation of EPAS1 gene polymorphism with climate-geographical factors
https://doi.org/10.25557/2073-7998.2025.07.114-15
Abstract
A correlation analysis of polymorphic variants (SNPs) in the EPAS1 gene was conducted for 359 individuals from 52 indigenous ethnic groups of Russia and neighboring countries, taking into account their climatic and geographical characteristics. The most significant SNPs (rs17039192, rs4953342, rs6743087, rs1374749, rs4953361) were identified, and their frequency distribution was assessed across the studied populations. Specific patterns of SNP distribution among indigenous peoples of Siberia and Caucasus residents were revealed.
Supporting agencies: The study was supported by the Russian Science Foundation grant № 22-64-00060, https://rscf.ru/project/22-64-00060.
About the Authors
I. Yu. Khitrinskaya
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Nab. Ushaiki, Tomsk, 634050
V. N. Kharkov
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Nab. Ushaiki, Tomsk, 634050
A. A. Zarubin
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Nab. Ushaiki, Tomsk, 634050
M. O. Radzhabov
Dagestan Federal Research Center
Russian Federation
Russian Federation
45, M.Gadzhieva st., Mahachkala, 367000
V. A. Stepanov
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Nab. Ushaiki, Tomsk, 634050
References
1. Beall C.M., Cavalleri G.L., Deng L. et al. Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders. Proceedings of the National Academy of Sciences of U.S.A. 2010; 107(25):112459-11464.
2. Sharma V., Varshney R., Sethy N.K. Human adaptation to high altitude: a review of convergence between genomic and proteomic signatures. Hum Genomics. 2022;16(1):21.
3. Peel M.C., Finlayson B.L., McMahon T.A. Updated world map of the Koeppen-Geiger climate classification. Hydrol. Earth Syst. Sci.. 2007; 11:1633-1644.
Review
For citations:
Khitrinskaya I.Yu., Kharkov V.N., Zarubin A.A., Radzhabov M.O., Stepanov V.A. The genetic landscape of human adaptation to extreme environmental conditions: correlation of EPAS1 gene polymorphism with climate-geographical factors. Medical Genetics. 2025;24(7):114-115. (In Russ.) https://doi.org/10.25557/2073-7998.2025.07.114-15
Views:
4
Email this article 