Genomic evidence for adaptation to tuberculosis in the Andes before European contact

• Type of Material: Article
• Authors: Sophie K Joseph, Emory University; Nicola R Migliore, Università degli Studi di Pavia; Anna Olivieri, Università degli Studi di Pavia; Antonio Torroni, Università degli Studi di Pavia; Amanda C Owings, University of Iowa; Michael DeGiorgio, Florida Atlantic University; Wladimir G Ordóñez, Investigaciones y Trabajos Arqueológicos (CEITA); Ortiz J.J Aguilú, Universidad Técnica de Manabí; Fabricio González-Andrade, Universidad Central del Ecuador; Alessandro Achilli, Università degli Studi di Pavia; John Lindo, Emory University
• Language: English
• Date: 2023-02-17
• Publisher: Emory University Libraries
• Publication Version: Final Published Version
• Copyright Statement: © 2023 The Author(s)
• License: Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International
• Final Published Version (URL): http://dx.doi.org/10.1016/j.isci.2023.106034
• Title of Journal or Parent Work: iScience
• Volume: 26
• Issue: 2
• Keywords: tuberculosis
• Research Categories: Anthropology, Medical and Forensic; Engineering, Electronics and Electrical

Abstract

Most studies focusing on human high-altitude adaptation in the Andean highlands have thus far been focused on Peruvian populations. We present high-coverage whole genomes from Indigenous people living in the Ecuadorian highlands and perform multi-method scans to detect positive natural selection. We identified regions of the genome that show signals of strong selection to both cardiovascular and hypoxia pathways, which are distinct from those uncovered in Peruvian populations. However, the strongest signals of selection were related to regions of the genome that are involved in immune function related to tuberculosis. Given our estimated timing of this selection event, the Indigenous people of Ecuador may have adapted to Mycobacterium tuberculosis thousands of years before the arrival of Europeans. Furthermore, we detect a population collapse that coincides with the arrival of Europeans, which is more severe than other regions of the Andes, suggesting differing effects of contact across high-altitude populations.