title: Positive selection of AS3MT to arsenic water in Andean populations.
abstract: Arsenic is a carcinogen associated with skin lesions and cardiovascular diseases. The Colla population from the Puna region in Northwest Argentinean is exposed to levels of arsenic in drinking water exceeding the recommended maximum by a factor of 20. Yet, they thrive in this challenging environment since thousands of years and therefore we hypothesize strong selection signatures in genes involved in arsenic metabolism. We analyzed genome-wide genotype data for 730,000 loci in 25 Collas, considering 24 individuals of the neighbouring Calchaquíes and 24 Wichí from the Gran Chaco region in the Argentine province of Salta as control groups. We identified a strong signal of positive selection in the main arsenic methyltransferase AS3MT gene, which has been previously associated with lower concentrations of the most toxic product of arsenic metabolism monomethylarsonic acid. This study confirms recent studies reporting selection signals in the AS3MT gene albeit using different samples, tests and control populations.
authors.affiliation: Division of Biological Anthropology, University of Cambridge, Cambridge CB2 1QH, Cambridgeshire, UK; Center for Pulmonary Hypertension, Thoraxclinic at the University Hospital Heidelberg, 69126 Heidelberg, Baden-Württemberg, Germany. Electronic address: Christina.Eichstaedt@med.uni-heidelberg.de.
authors.forename: Christina A
authors.initials: CA
authors.lastname: Eichstaedt
authors.affiliation: Department of Vector Biology, Liverpool School of Tropical Medicine, Liverpool L3 5QA, Lancashire, UK.
authors.forename: Tiago
authors.initials: T
authors.lastname: Antao
authors.affiliation: Division of Biological Anthropology, University of Cambridge, Cambridge CB2 1QH, Cambridgeshire, UK.
authors.forename: Alexia
authors.initials: A
authors.lastname: Cardona
authors.affiliation: Division of Biological Anthropology, University of Cambridge, Cambridge CB2 1QH, Cambridgeshire, UK; Wellcome Trust Sanger Institute, Hinxton CB10 1SA, Cambridgeshire, UK.
authors.forename: Luca
authors.initials: L
authors.lastname: Pagani
authors.affiliation: Division of Biological Anthropology, University of Cambridge, Cambridge CB2 1QH, Cambridgeshire, UK.
authors.forename: Toomas
authors.initials: T
authors.lastname: Kivisild
authors.affiliation: Division of Biological Anthropology, University of Cambridge, Cambridge CB2 1QH, Cambridgeshire, UK; Faculty of Humanities and Social Sciences, University of Winchester, Winchester SO22 4NR, Hampshire, UK. Electronic address: Maru.Mormina@winchester.ac.uk.
authors.forename: Maru
authors.initials: M
authors.lastname: Mormina
mesh_terms: D000328:Adult; D001118:Argentina; D001151:Arsenic / Q000633:toxicity*; D001152:Arsenicals / Q000378:metabolism; D005260:Female; D055106:Genome-Wide Association Study; D006801:Humans; D007199:Indians, South American / Q000235:genetics*; D008297:Male; D008780:Methyltransferases / Q000235:genetics* / Q000378:metabolism; D012641:Selection, Genetic; D014874:Water Pollutants, Chemical / Q000633:toxicity*
chemical_list: D001152:Arsenicals; D014874:Water Pollutants, Chemical; D008780:Methyltransferases; C505756:AS3MT protein, human; C020300:monomethylarsonic acid; D001151:Arsenic
keywords: Arsenic drinking water; Calchaquíes; Collas; Methyltransferase; Puna