2012 Wiley-Blackwell Plenary Session: A Half Century of High-Altitude Studies in Anthropology Guest Editors: Michael A. Little, R. Brooke Thomas, and Ralph M. Garruto
Andean and Tibetan patterns of adaptation to high altitude
Article first published online: 24 JAN 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Human Biology
Volume 25, Issue 2, pages 190–197, March/April 2013
How to Cite
Bigham, A. W., Wilson, M. J., Julian, C. G., Kiyamu, M., Vargas, E., Leon-Velarde, F., Rivera-Chira, M., Rodriquez, C., Browne, V. A., Parra, E., Brutsaert, T. D., Moore, L. G. and Shriver, M. D. (2013), Andean and Tibetan patterns of adaptation to high altitude. Am. J. Hum. Biol., 25: 190–197. doi: 10.1002/ajhb.22358
- Issue published online: 22 FEB 2013
- Article first published online: 24 JAN 2013
- Manuscript Accepted: 19 NOV 2012
- Manuscript Received: 12 NOV 2012
- National Institutes of Health. Grant Numbers: HLBI-079647 (L.G.M.), TW001188 (L.G.M.), HG-002154 (M.D.S.)
- National Science Foundation. Grant Numbers: BNS-8919645 (L.G.M.), 0622337 (A.W.B. and M.D.S.), BCS-0129377 (T.D.B.)
- Wenner-Gren Foundation. Grant Number: 7538 (A.W.B.)
- National Science Foundation Graduate Research Fellowships to A.W.B. and M.J.W., and an American Heart Association Predoctoral Fellowship to C.G.J
High-altitude hypoxia, or decreased oxygen levels caused by low barometric pressure, challenges the ability of humans to live and reproduce. Despite these challenges, human populations have lived on the Andean Altiplano and the Tibetan Plateau for millennia and exhibit unique circulatory, respiratory, and hematological adaptations to life at high altitude. We and others have identified natural selection candidate genes and gene regions for these adaptations using dense genome scan data. One gene previously known to be important in cellular oxygen sensing, egl nine homolog 1 (EGLN1), shows evidence of positive selection in both Tibetans and Andeans. Interestingly, the pattern of variation for this gene differs between the two populations. Continued research among Tibetan populations has identified statistical associations between hemoglobin concentration and single nucleotide polymorphism (SNP) genotype at EGLN1 and a second gene, endothelial PAS domain protein 1 (EPAS1).
To measure for the effects of EGLN1 and EPAS1 altitude genotypes on hemoglobin concentration among Andean highlanders, we performed a multiple linear regression analysis of 10 candidate SNPs in or near these two genes.
Our analysis did not identify significant associations between EPAS1 or EGLN1 SNP genotypes and hemoglobin concentration in Andeans.
These results contribute to our understanding of the unique set of adaptations developed in different highland groups to the hypoxia of high altitude. Overall, the results provide key insights into the patterns of geneticadaptation to high altitude in Andean and Tibetan populations. Am. J. Hum. Biol. 25:190–197, 2013. © 2013 Wiley Periodicals, Inc.