Andean and Tibetan patterns of adaptation to high altitude
Dados Bibliográficos
| AUTOR(ES) | |
|---|---|
| AFILIAÇÃO(ÕES) | Instituto Boliviano de Biología de Altura La Paz Bolivia, Altitude Research Center University of Colorado Denver Aurora Colorado, University of Michigan, Ann Arbor, Pennsylvania State University, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia Lima Peru, University at Albany, 1400 Washington Avenue, Albany, NY 12222 USA, Department of Exercise Science Syracuse University Syracuse New York, University of Toronto Faculty of Medicine, Clinica Siraní Santa Cruz Bolivia, Department of Health and Behavioral Science University of Colorado Denver Denver Colorado |
| ANO | Não informado |
| TIPO | Artigo |
| DOI | 10.1002/ajhb.22358 |
| CITAÇÕES | 11 |
| ADICIONADO EM | 2025-08-18 |
Resumo
ObjectivesHigh‐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).MethodsTo 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.ResultsOur analysis did not identify significant associations between EPAS1 or EGLN1 SNP genotypes and hemoglobin concentration in Andeans.ConclusionsThese 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.