Document Detail


Andean and Tibetan patterns of adaptation to high altitude.
MedLine Citation:
PMID:  23348729     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
OBJECTIVES: 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). METHODS: 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. RESULTS: Our analysis did not identify significant associations between EPAS1 or EGLN1 SNP genotypes and hemoglobin concentration in Andeans. CONCLUSIONS: 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., 2013. © 2013 Wiley Periodicals, Inc.
Authors:
Abigail W Bigham; Megan J Wilson; Colleen G Julian; Melisa Kiyamu; Enrique Vargas; Fabiola Leon-Velarde; Maria Rivera-Chira; Carmelo Rodriquez; Vaughn A Browne; Esteban Parra; Tom D Brutsaert; Lorna G Moore; Mark D Shriver
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-1-24
Journal Detail:
Title:  American journal of human biology : the official journal of the Human Biology Council     Volume:  -     ISSN:  1520-6300     ISO Abbreviation:  Am. J. Hum. Biol.     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-1-25     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8915029     Medline TA:  Am J Hum Biol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2013 Wiley Periodicals, Inc.
Affiliation:
Department of Anthropology, University of Michigan, Ann Arbor, Michigan.
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