{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T00:51:27Z","timestamp":1790211087352,"version":"4.1.0"},"reference-count":68,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2019,8,6]],"date-time":"2019-08-06T00:00:00Z","timestamp":1565049600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002850","name":"Fondo Nacional de Desarrollo Cient\u00edfico y Tecnol\u00f3gico \u201cFONDECYT\u201d","doi-asserted-by":"publisher","award":["3170038"],"award-info":[{"award-number":["3170038"]}],"id":[{"id":"10.13039\/501100002850","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002850","name":"Fondo Nacional de Desarrollo Cient\u00edfico y Tecnol\u00f3gico \u201cFONDECYT\u201d","doi-asserted-by":"publisher","award":["1120987"],"award-info":[{"award-number":["1120987"]}],"id":[{"id":"10.13039\/501100002850","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002850","name":"Fondo Nacional de Desarrollo Cient\u00edfico y Tecnol\u00f3gico \u201cFONDECYT\u201d","doi-asserted-by":"publisher","award":["1160833"],"award-info":[{"award-number":["1160833"]}],"id":[{"id":"10.13039\/501100002850","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,9,1]]},"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\u2009\u00b5g\/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 (\u223c120\u2009\u00b5g\/l) for at least 5,000\u2009years, suggesting adaptation to this selective pressure. Here, we performed two genome-wide selection tests\u2014PBSn1 and an ancestry-enrichment test\u2014in 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\u2009=\u20090.012) was achieved by the LCE4A-C1orf68 variant. The ancestry-enrichment test detected highly significant signals (P\u2009=\u20091.3 \u00d7 10\u22129) 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>","DOI":"10.1093\/gbe\/evz172","type":"journal-article","created":{"date-parts":[[2019,8,3]],"date-time":"2019-08-03T11:11:45Z","timestamp":1564830705000},"page":"2468-2479","source":"Crossref","is-referenced-by-count":20,"title":["Adaptation to Extreme Environments in an Admixed Human Population from the Atacama Desert"],"prefix":"10.1093","volume":"11","author":[{"given":"Lucas","family":"Vicu\u00f1a","sequence":"first","affiliation":[{"name":"Department of Statistics, Faculty of Mathematics, Pontificia Universidad Cat\u00f3lica de Chile, Santiago, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6424-4977","authenticated-orcid":false,"given":"Mario I","family":"Fernandez","sequence":"additional","affiliation":[{"name":"Department of Urology, Cl\u00ednica Alemana, Santiago, Chile"},{"name":"Center for Genetics and Genomics, Faculty of Medicine, Cl\u00ednica Alemana Universidad del Desarrollo, Santiago, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia","family":"Vial","sequence":"additional","affiliation":[{"name":"Center for Genetics and Genomics, Faculty of Medicine, Cl\u00ednica Alemana Universidad del Desarrollo, Santiago, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricio","family":"Valdebenito","sequence":"additional","affiliation":[{"name":"Department of Urology, Hospital Regional, Antofagasta, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo","family":"Chaparro","sequence":"additional","affiliation":[{"name":"Department of Urology, Hospital Regional, Antofagasta, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karena","family":"Espinoza","sequence":"additional","affiliation":[{"name":"Department of Urology, Cl\u00ednica Alemana, Santiago, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annemarie","family":"Ziegler","sequence":"additional","affiliation":[{"name":"Center for Genetics and Genomics, Faculty of Medicine, Cl\u00ednica Alemana Universidad del Desarrollo, Santiago, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Bustamante","sequence":"additional","affiliation":[{"name":"Department of Urology, Cl\u00ednica Alemana, Santiago, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susana","family":"Eyheramendy","sequence":"additional","affiliation":[{"name":"Department of Statistics, Faculty of Mathematics, Pontificia Universidad Cat\u00f3lica de Chile, Santiago, Chile"},{"name":"Faculty of Engineering and Sciences, Universidad Adolfo Iba\u00f1ez, Pe\u00f1alol\u00e9n, Santiago, 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