VIAL COX, MARIA CECILIA
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VIAL COX, MARIA CECILIA
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mcvial@udd.cl
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Scopus Author ID
55553152400

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2020 2020 2019 2019 0.0 0.0 0.2 0.2 0.4 0.4 0.6 0.6 0.8 0.8 1.0 1.0

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Publication

Impact of arsenic exposure on clinicopathological characteristics of bladder cancer: A comparative study between patients from an arsenic-exposed region and nonexposed reference sites

2020 , FERNANDEZ ARANCIBIA, MARIO , Patricio Valdebenito , DELGADO BECERRA, OROZIMBA IRIS , Jorge Segebre , Eduardo Chaparro , David Fuentealba , Martín Castillo , VIAL COX, MARIA CECILIA , Juan P. Barroso , Annemarie Ziegler , Alberto Bustamante

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Publication

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

2019 , Lucas Vicuña , FERNANDEZ ARANCIBIA, MARIO , VIAL COX, MARIA CECILIA , Patricio Valdebenito , Eduardo Chaparro , Karena Espinoza , Annemarie Ziegler , Alberto Bustamante , Susana Eyheramendy , David Enard

AbstractInorganic 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 significant signals (P = 1.3 × 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.

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