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Author Vicuna, L.; Fernandez, M.I.; Vial, C.; Valdebenito, P.; Chaparro, E.; Espinoza, K.; Ziegler, A.; Bustamante, A.; Eyheramendy, S. doi  openurl
  Title Adaptation to Extreme Environments in an Admixed Human Population from the Atacama Desert Type Journal Article
  Year 2019 Publication Genome Biology And Evolution Abbreviated Journal Genome Biol. Evol.  
  Volume 11 Issue 9 Pages 2468-2479  
  Keywords arsenic; positive selection; bladder cancer; Native Americans  
  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 μmg/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 (similar to 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 x 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.  
  Address [Vicuna, Lucas; Eyheramendy, Susana] Pontificia Univ Catolica Chile, Fac Math, Dept Stat, Santiago, Chile, Email: mfernandeza@alemana.cl  
  Corporate Author Thesis  
  Publisher Oxford Univ Press Place of Publication Editor  
  Language English Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue (up) Edition  
  ISSN 1759-6653 ISBN Medium  
  Area Expedition Conference  
  Notes WOS:000491234700003 Approved no  
  Call Number UAI @ eduardo.moreno @ Serial 1091  
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