Repositorio UFRO · Omeka S

Gallbladder Cancer Risk and Indigenous South American Mapuche Ancestry: Instrumental Variable Analysis Using Ancestry-Informative Markers

Primer Autor	Bermejo, Justo Lorenzo
Co-autores	Zollner, Linda Boekstegers, Felix Ponce, Carol Barahona Scherer, Dominique Marcelain, Katherine Garate-Calderon, Valentina Waldenberger, Melanie Morales, Erik Rojas, Armando Munoz, Cesar Retamales, Javier De Toro, Gonzalo Kortmann, Allan Vera Barajas, Olga Rivera, Maria Teresa Cortes, Analia Loader, Denisse Saavedra, Javiera Gutierrez, Lorena Ortega, Alejandro Bertran, Maria Enriqueta Bartolotti, Leonardo Gabler, Fernando Campos, Monica Alvarado, Juan Moisan, Fabricio Spencer, Loreto Nervi, Bruno Carvajal, Daniel Losada, Hector Almau, Mauricio Fernandez, Plinio Olloquequi, Jordi Carter, Alice R. Poblete, Juan Francisco Miquel Bustos, Bernabe Ignacio Guajardo, Macarena Fuentes Gonzalez-Jose, Rolando Bortolini, Maria Catira Acuna-Alonzo, Victor Gallo, Carla Linares, Andres Ruiz Rothhammer, Francisco
Título	Gallbladder Cancer Risk and Indigenous South American Mapuche Ancestry: Instrumental Variable Analysis Using Ancestry-Informative Markers
Editorial	MDPI
Revista	CANCERS
Lenguaje	en
Resumen	A strong association between the proportion of indigenous South American Mapuche ancestry and the risk of gallbladder cancer (GBC) has been reported in observational studies. Chileans show the highest incidence of GBC worldwide, and the Mapuche are the largest indigenous people in Chile. We set out to assess the confounding-free effect of the individual proportion of Mapuche ancestry on GBC risk and to investigate the mediating effects of gallstone disease and body mass index (BMI) on this association. Genetic markers of Mapuche ancestry were selected based on the informativeness for assignment measure, and then used as instrumental variables in two-sample Mendelian randomization analyses and complementary sensitivity analyses. Results suggested a putatively causal effect of Mapuche ancestry on GBC risk (inverse variance-weighted (IVW) risk increase of 0.8% per 1% increase in Mapuche ancestry proportion, 95% CI 0.4% to 1.2%, p = 6.7 x 10(-5)) and also on gallstone disease (3.6% IVW risk increase, 95% CI 3.1% to 4.0%), pointing to a mediating effect of gallstones on the association between Mapuche ancestry and GBC. In contrast, the proportion of Mapuche ancestry showed a negative effect on BMI (IVW estimate -0.006 kg/m(2), 95% CI -0.009 to -0.003). The results presented here may have significant implications for GBC prevention and are important for future admixture mapping studies. Given that the association between the individual proportion of Mapuche ancestry and GBC risk previously noted in observational studies appears to be free of confounding, primary and secondary prevention strategies that consider genetic ancestry could be particularly efficient.
Fecha Publicación	2023
Tipo de Recurso	artículo original
Description	Los autores agradecen el servicio de almacenamiento de datos SDS@hd apoyado por el Ministerio de Ciencia, Investigación y Artes de Baden-Wurttemberg (MWK) y la Fundación Alemana de Investigación (DFG) a través de subvenciones INST 35/1314-1 FUGG e INST 35/1503-1 FUGG, y el acceso a las instalaciones informáticas proporcionadas por Steven J. Lubbe en la Facultad de Medicina de Northwestern University-Feinberg.
doi	10.3390/cancers15164033
Formato Recurso	PDF
Palabras Claves	gallbladder cancer gallstone disease genetic admixture indigenous South American Mapuche ancestry ancestry-informative markers causal inference instrumental variables Mendelian randomization cáncer de vesícula biliar enfermedad de cálculos biliares mezcla genética ascendencia indígena mapuche sudamericana marcadores informativos de ascendencia inferencia causal variables instrumentales aleatorización mendeliana
Ubicación del archivo	http://dx.doi.org/10.3390/cancers15164033
Categoría OCDE	Oncology
Materias	gallbladder cancer gallstone disease genetic admixture indigenous South American Mapuche ancestry ancestry-informative markers causal inference instrumental variables Mendelian randomization cáncer de vesícula biliar enfermedad de cálculos biliares mezcla genética ascendencia indígena mapuche sudamericana marcadores informativos de ascendencia inferencia causal variables instrumentales aleatorización mendeliana
Disciplinas de la OCDE	Oncología Genética Humana
Id de Web of Science	WOS:001063425200001
Referencia del Financiador (Mandatado si es aplicable-repetible)	Ministry of Science, Research, and the Arts Baden-Wurttemberg (MWK) German Research Foundation (DFG) INST 35/1314-1 FUGG German Research Foundation (DFG) INST 35/1503-1 FUGG Northwestern University-Feinberg School of Medicine.
Título de la cita (Recomendado-único)	Gallbladder Cancer Risk and Indigenous South American Mapuche Ancestry: Instrumental Variable Analysis Using Ancestry-Informative Markers
Identificador del recurso (Mandatado-único)	artículo original
Versión del recurso (Recomendado-único)	versión publicada
Editorial	MDPI
Revista/Libro	CANCERS
Categoría WOS	Oncología
Idioma	en
ISSN	2072-6694
License	CC BY 4.0
Condición de la licencia (Recomendado-repetible)	CC BY 4.0
Derechos de acceso	acceso abierto
Access Rights	acceso abierto
Tipo de ruta	verde# dorado