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

Genome Biology and Evolution
Lucas VicuñaSusana Eyheramendy

Abstract

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 signif...Continue Reading

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Citations

Aug 24, 2020·World Journal of Surgical Oncology·Xuehui FanGuozhong Li
Apr 18, 2021·Trends in Ecology & Evolution·Joana L RochaRasmus Nielsen

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Methods Mentioned

BETA
Assay
Genotyping

Software Mentioned

house Python script
LD
in
R script
Plink
APT
Genotyping ConsoleTM
Ensembl
R package extRemes
POPRES

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