Abstract
The human population had started migration to high altitude locations in different parts of the globe, thousands of years ago for survival and the same process is still continuing for economic reasons, military reasons, mining, research and trading. In an attempt to survive in the low oxygen environment of high altitude, the human system has undergone various adaptive changes which is distinct from low landers and also distinct in different high-altitude populations. Discovery of hypoxia inducible factors and their physiological consequences in response to hypoxia has put insight into the molecular basis of the different high-altitude related illnesses. Due to the availability of advanced tools and technologies for genomic studies, a genetic link between phenotypic changes with genetic variations is being extensively investigated for the last few decades and is expected to improve not only the evolutionary studies but also to help with therapeutic interventions in high-altitude medicine.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Monge CC, Arregui A, Leon-Velarde F. Pathophysiology and epidemiology of chronic mountain sickness. Int J Sports Med. 1992;13(Suppl 1):S79–81.
Penaloza D, Arias-Stella J. The heart and pulmonary circulation at high altitudes: healthy highlanders and chronic mountain sickness. Circulation. 2007;115:1132–46.
Penaloza D, Sime F. Chronic cor pulmonale due to loss of altitude acclimatization (chronic mountain sickness). Am J Med. 1971;50:728–43.
Prabhakar NR, Semenza GL. Regulation of carotid body oxygen sensing by hypoxia-inducible factors. Pflugers Arch. 2016;468:71–5.
Eichstaedt CA, Benjamin N, Grünig E. Genetics of pulmonary hypertension and high-altitude pulmonary edema. J Appl Physiol. 2020;128:1432–8. https://doi.org/10.1152/japplphysiol.00113.2020. Epub 2020
Beall CM, Cavalleri GL, Deng L, et al. Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders. Proc Natl Acad Sci U S A. 2010;107:11459–64.
Shen Y, Zhang J, Yang J, et al. Association of EPAS1 and PPARA gene polymorphisms with high-altitude headache in Chinese Han population. Biomed Res Int. 2020;2020:1593068. https://doi.org/10.1155/2020/1593068.
Pan W, Liu C, Zhang J, et al. Polymorphisms in PPARA and EPAS1 genes and high-altitude appetite loss in Chinese young men. Front Physiol. 2019;10:59. https://doi.org/10.3389/fphys.2019.00059.
Molinaro L, Pagani L. Human evolutionary history of eastern Africa. Curr Opin Genet Dev. 2018;53:134–9.
Zhou D, Udpa N, Ronen R, et al. Whole-genome sequencing uncovers the genetic basis of chronic mountain sickness in Andean highlanders. Am J Hum Genet. 2013;93:452–62.
Bigham AW, Kiyamu M, Leon-Velarde F, et al. Angiotensin-converting enzyme genotype and arterial oxygen saturation at high altitude in Peruvian Quechua. High Alt Med Biol. 2008;9:167–78.
Scheinfeldt LB, Soi S, Thompson S, et al. Genetic adaptation to high altitude in the Ethiopian highlands. Genome Biol. 2012;13:R1.
Ronen R, Zhou D, Bafna V, et al. The genetic basis of chronic mountain sickness. Physiology (Bethesda). 2014;29:403–12.
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2023 The Author(s), under exclusive license to Springer Nature Switzerland AG
About this chapter
Cite this chapter
Bhattacharyya, P., Deb, P., Pradhan, D. (2023). Genetics in High Altitude Medicine. In: Hidalgo, J., Da Re, S., D'Almeida, A.G. (eds) High Altitude Medicine. Springer, Cham. https://doi.org/10.1007/978-3-031-35092-4_3
Download citation
DOI: https://doi.org/10.1007/978-3-031-35092-4_3
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-031-35091-7
Online ISBN: 978-3-031-35092-4
eBook Packages: MedicineMedicine (R0)