Research Output

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Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies

2015 , GUILLERMO ROBERTO LAY SON RODRIGUEZ , Karena Espinoza , VIAL COX, MARIA CECILIA , Juan C. Rivera , María L. Guzmán , REPETTO LISBOA, MARIA GABRIELA

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Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients

2017 , Luis E. León , BENAVIDES GONZALEZ, FELIPE ORLANDO , Karena Espinoza , Patricia Alvarez , VIAL COX, MARIA CECILIA , Mirta Palomares , Guillermo Lay-Son , Macarena Miranda , REPETTO LISBOA, MARIA GABRIELA

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Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study

2014 , REPETTO LISBOA, MARIA GABRIELA , M Luisa Guzmán , DELGADO BECERRA, OROZIMBA IRIS , Hugo Loyola , Mirta Palomares , Guillermo Lay-Son , VIAL COX, MARIA CECILIA , BENAVIDES GONZALEZ, FELIPE ORLANDO , Karena Espinoza , Patricia Alvarez

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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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Diagnóstico de intolerancia a la lactosa en adultos: rendimiento comparativo de la clínica, test de hidrógeno espirado y test genético

2012 , Antonio Rollán , VIAL COX, MARIA CECILIA , Soledad Quesada , Karena Espinoza , Mary Hatton , Alonso Puga , REPETTO LISBOA, MARIA GABRIELA