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Human Genetic Adaptation to High Altitude: Evidence from the Andes

Department of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA
Department of Obstetrics and Gynecology, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA
Author to whom correspondence should be addressed.
Genes 2019, 10(2), 150;
Received: 2 November 2018 / Revised: 29 January 2019 / Accepted: 11 February 2019 / Published: 15 February 2019
(This article belongs to the Special Issue Genetic Epidemiology of Complex Diseases in Latin America)
Whether Andean populations are genetically adapted to high altitudes has long been of interest. Initial studies focused on physiological changes in the O2 transport system that occur with acclimatization in newcomers and their comparison with those of long-resident Andeans. These as well as more recent studies indicate that Andeans have somewhat larger lung volumes, narrower alveolar to arterial O2 gradients, slightly less hypoxic pulmonary vasoconstrictor response, greater uterine artery blood flow during pregnancy, and increased cardiac O2 utilization, which overall suggests greater efficiency of O2 transfer and utilization. More recent single nucleotide polymorphism and whole-genome sequencing studies indicate that multiple gene regions have undergone recent positive selection in Andeans. These include genes involved in the regulation of vascular control, metabolic hemostasis, and erythropoiesis. However, fundamental questions remain regarding the functional links between these adaptive genomic signals and the unique physiological attributes of highland Andeans. Well-designed physiological and genome association studies are needed to address such questions. It will be especially important to incorporate the role of epigenetic processes (i.e., non-sequence-based features of the genome) that are vital for transcriptional responses to hypoxia and are potentially heritable across generations. In short, further exploration of the interaction among genetic, epigenetic, and environmental factors in shaping patterns of adaptation to high altitude promises to improve the understanding of the mechanisms underlying human adaptive potential and clarify its implications for human health. View Full-Text
Keywords: adaptation; hypoxia; altitude; genomics; epigenomics adaptation; hypoxia; altitude; genomics; epigenomics
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Julian, C.G.; Moore, L.G. Human Genetic Adaptation to High Altitude: Evidence from the Andes. Genes 2019, 10, 150.

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