Andean and Tibetan patterns of adaptation to high altitude. Issue 2 (24th January 2013)

• Record Type: Journal Article
• Authors: Bigham, Abigail W.; Wilson, Megan J.; Julian, Colleen G.; Kiyamu, Melisa; Vargas, Enrique; Leon‐Velarde, Fabiola; Rivera‐Chira, Maria; Rodriquez, Carmelo; Browne, Vaughn A.; Parra, Esteban; Brutsaert, Tom D.; Moore, Lorna G.; Shriver, Mark D.
• Is Part Of: American journal of human biology. Volume 25:Issue 2(2013:Mar./Apr.)
• Page Start: 190
• Page End: 197
• Publication Date: 2013-01-24
• Subjects: Human biology -- Periodicals; Physical anthropology -- Periodicals; Biologie humaine -- Périodiques; Anthropologie physique -- Périodiques; 612
• DOI: 10.1002/ajhb.22358
• Languages: English
• ISSNs: 1042-0533

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajhb22358-sec-0001" sec-type="section"> <title>Objectives</title> <p>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 (<italic>EGLN1</italic>), 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 <italic>EGLN1</italic> and a second gene, endothelial PAS domain protein 1 (<italic>EPAS1</italic>).</p> </sec> <sec id="ajhb22358-sec-0002" sec-type="section"> <title>Methods</title> <p>To measure for the effects of <italic>EGLN1</italic> and <italic>EPAS1</italic> 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.</p> </sec> <sec id="ajhb22358-sec-0003" sec-type="section"> <title>Results</title> <p>Our analysis did not identify significant associations between <italic>EPAS1</italic> or <italic>EGLN1</italic> SNP genotypes and hemoglobin concentration in Andeans.</p> </sec> <sec id="ajhb22358-sec-0004" sec-type="section"> <title>Conclusions</title> <p>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.</p> </sec> </abstract>