Adaptation to Extreme Environments in an Admixed Human Population from the Atacama Desert

Journal
Genome Biology and Evolution
ISSN
1759-6653
Date Issued
2019
Author(s)
Lucas Vicuña
Patricio Valdebenito
Eduardo Chaparro
Karena Espinoza
Annemarie Ziegler
Alberto Bustamante
Susana Eyheramendy
Type
Resource Types::text::journal::journal article
Scopus ID
2-s2.0-85071900299
WoS ID
WOS:000491234700003
DOI
URL
Abstract
<jats:title>Abstract</jats:title><jats:p>Inorganic arsenic (As) is a toxic xenobiotic and carcinogen associated with severe health conditions. The urban population from the Atacama Desert in northern Chile was exposed to extremely high As levels (up to 600 µg/l) in drinking water between 1958 and 1971, leading to increased incidence of urinary bladder cancer (BC), skin cancer, kidney cancer, and coronary thrombosis decades later. Besides, the Andean Native-American ancestors of the Atacama population were previously exposed for millennia to elevated As levels in water (∼120 µg/l) for at least 5,000 years, suggesting adaptation to this selective pressure. Here, we performed two genome-wide selection tests—PBSn1 and an ancestry-enrichment test—in an admixed population from Atacama, to identify adaptation signatures to As exposure acquired before and after admixture with Europeans, respectively. The top second variant selected by PBSn1 was associated with LCE4A-C1orf68, a gene that may be involved in the immune barrier of the epithelium during BC. We performed association tests between the top PBSn1 hits and BC occurrence in our population. The strongest association (P = 0.012) was achieved by the LCE4A-C1orf68 variant. The ancestry-enrichment test detected highly significant signals (P = 1.3 × 10−9) mapping MAK16, a gene with important roles in ribosome biogenesis during the G1 phase of the cell cycle. Our results contribute to a better understanding of the genetic factors involved in adaptation to the pathophysiological consequences of As exposure.</jats:p>
Cite this document
Vicuña, L., Fernandez, M. I., Vial, C., Valdebenito, P., Chaparro, E., Espinoza, K., Ziegler, A., Bustamante, A., & Eyheramendy, S. (2019). Adaptation to extreme environments in an admixed human population from the atacama desert. Genome Biology and Evolution, 11(9), 2468-2479. https://doi.org/10.1093/gbe/evz172
Project(s)
Subjects
arsenic

; 

positive selection

; 

bladder cancer

; 

native americans

; 

adaptation, physiological

; 

arsenic

; 

cell cycle proteins

; 

cornified envelope proline-rich proteins

; 

desert climate

; 

extreme environments

; 

female

; 

humans

; 

indians, north american

; 

male

; 

methyltransferases

; 

neoplasms

; 

polymorphism, single nucleotide

; 

urinary bladder neoplasms

; 

water pollutants, chemical

; 

arsenic

; 

as3mt protein, human

; 

cell cycle protein

; 

cornified envelope like proline rich protein

; 

lce4a protein, human

; 

methyltransferase

; 

adaptation

; 

american indian

; 

bladder tumor

; 

desert climate

; 

extreme environment

; 

female

; 

genetics

; 

human

; 

male

; 

metabolism

; 

neoplasm

; 

single nucleotide polymorphism

; 

toxicity

; 

water pollutant