Human adaptation in the Andes Mountains

Human Population Genetics and Genomics 2025;5(1):0002 | https://doi.org/10.47248/hpgg2505010002

Original Research Open Access

Human adaptation in the Andes Mountains

Jessica De Loma ¹ , Mário Vicente ^2,3,4 , Noemi Tirado ⁵ , Franz Ascui ⁶ , Luis A. Parada ⁷ , Jacques Gardon ⁸ , Carina Schlebusch ^2,9,10 , Karin Broberg ¹

1. Institute of Environmental Medicine, Unit of Metals and Health, Karolinska Institutet, 177 Stockholm, Sweden
2. Human Evolution, Department of Organismal Biology, Uppsala University, 752 36 Uppsala, Sweden
3. Centre for Palaeogenetics, University of Stockholm, 114 18 Stockholm, Sweden
4. Department of Archaeology and Classical Studies, Stockholm University, 106 91 Stockholm, Sweden
5. Genetics Institute, Genotoxicology Unit, Universidad Mayor de San Andrés, La Paz, Bolivia
6. Programa de Salud Familiar Comunitaria e Intercultural (SAFCI), Ministerio de Salud y Deportes Bolivia, La Paz, Bolivia
7. Facultad de Ciencias Exactas and Consejo de Investigación, Universidad Nacional de Salta, A4400 Salta, Argentina
8. Hydrosciences Montpellier, Institut de Recherche pour le Développement, CNRS, University of Montpellier, 34093 Montpellier, France
9. Palaeo-Research Institute, University of Johannesburg, P.O. Box 524, Auckland Park, 2006, South Africa
10. SciLifeLab Uppsala, 752 37 Uppsala, Sweden

Correspondence: Karin Broberg

Academic Editor(s): Maanasa Raghavan

Received: Oct 9, 2024 | Accepted: Feb 13, 2025 | Published: Feb 28, 2025

Cite this article: De Loma J, Vicente M, Tirado N, Ascui F, Parada LA, Gardon J, Schlebusch C, Broberg K. Human adaptation in the Andes Mountains. Hum Popul Genet Genom 2025; 5(1):0002. https://doi.org/10.47248/hpgg2505010002

Abstract

Humans have adapted to live in diverse environments worldwide. For example, humans living in the Andes Mountains of South America face challenging conditions including high altitude, arid climate, and high concentrations of toxic elements such as arsenic in the soil and water. However, genomic studies of natural selection in indigenous populations in South America are rare and focused mainly on adaptation to high altitude. Here, we conducted a genome-wide search for additional traits showing evidence of positive selection in three ethnic groups from the Andes Mountains, one from the Argentinean Puna (Atacameño-Kolla) and two from the Bolivian Altiplano (Uru and Aymara-Quechua), whose settlements share similar geological characteristics. We identified signals of positive selection in each population by three independent selection scan methods and compared these signals across populations. The three populations showed overlapping selection signals for 116 genes, among these, the most prominent categories, although not significant after multiple testing, were genes involved in sperm motility, opioid signaling and morphine addiction, and pathways related to immune defense against pathogens and cardiovascular functions. Taken together, the results of our multiple genome-wide selection scan methods identify potential positively selected traits that are shared across these three native Andean populations, thus revealing common mechanisms of adaptation in different ethnic groups living in the Andes.

Keywords

selection, native American, opioid, pathogen, high altitude, South America

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