干旱区生态环境知识资源中心(Arid): Adaptation to Extreme Environments in an Admixed Human Population from the Atacama Desert

Arid

DOI	10.1093/gbe/evz172
	Adaptation to Extreme Environments in an Admixed Human Population from the Atacama Desert
	Vicuna, Lucas; Fernandez, Mario I.; Vial, Cecilia; Valdebenito, Patricio; Chaparro, Eduardo; Espinoza, Karena; Ziegler, Annemarie; Bustamante, Alberto; Eyheramendy, Susana
通讯作者	Fernandez, MI (corresponding author), Clin Alemana, Dept Urol, Santiago, Chile. ; Fernandez, MI (corresponding author), Clin Alemana Univ Desarrollo, Fac Med, Ctr Genet & Genom, Santiago, Chile.
来源期刊	GENOME BIOLOGY AND EVOLUTION
ISSN	1759-6653
出版年	2019
卷号	11 期号:9 页码:2468-2479
英文摘要	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 mu mg/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 mu g/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.
英文关键词	arsenic positive selection bladder cancer Native Americans
类型	Article
语种	英语
开放获取类型	Green Published, gold
收录类别	SCI-E
WOS记录号	WOS:000491234700003
WOS关键词	GENOME-WIDE ASSOCIATION ; BLADDER-CANCER ; DRINKING-WATER ; UROTHELIAL CARCINOMAS ; GENETIC SIGNATURES ; NATURAL-SELECTION ; KIDNEY CANCER ; EXPOSURE ; REVEALS ; SMOKING
WOS类目	Evolutionary Biology ; Genetics & Heredity
WOS研究方向	Evolutionary Biology ; Genetics & Heredity
资源类型	期刊论文
条目标识符	http://119.78.100.177/qdio/handle/2XILL650/369682
作者单位	[Vicuna, Lucas; Eyheramendy, Susana] Pontificia Univ Catolica Chile, Fac Math, Dept Stat, Santiago, Chile; [Fernandez, Mario I.; Espinoza, Karena; Bustamante, Alberto] Clin Alemana, Dept Urol, Santiago, Chile; [Fernandez, Mario I.; Vial, Cecilia; Ziegler, Annemarie] Clin Alemana Univ Desarrollo, Fac Med, Ctr Genet & Genom, Santiago, Chile; [Valdebenito, Patricio; Chaparro, Eduardo] Hosp Reg, Dept Urol, Antofagasta, Chile; [Eyheramendy, Susana] Univ Adolfo Ibanez, Fac Engn & Sci, Santiago, Chile
推荐引用方式 GB/T 7714	Vicuna, Lucas,Fernandez, Mario I.,Vial, Cecilia,et al. Adaptation to Extreme Environments in an Admixed Human Population from the Atacama Desert[J],2019,11(9):2468-2479.
APA	Vicuna, Lucas.,Fernandez, Mario I..,Vial, Cecilia.,Valdebenito, Patricio.,Chaparro, Eduardo.,...&Eyheramendy, Susana.(2019).Adaptation to Extreme Environments in an Admixed Human Population from the Atacama Desert.GENOME BIOLOGY AND EVOLUTION,11(9),2468-2479.
MLA	Vicuna, Lucas,et al."Adaptation to Extreme Environments in an Admixed Human Population from the Atacama Desert".GENOME BIOLOGY AND EVOLUTION 11.9(2019):2468-2479.