ABCB1/4 gallbladder cancer risk variants identified in India also show strong effects in Chileans

Felix Boekstegers; Katherine Marcelain; Carol Barahona Ponce; Pablo F. Baez Benavides; Bettina Müller; Gonzalo de Toro; Javier Retamales; Olga Barajas; Monica Ahumada; Erik Morales; Armando Rojas; Verónica Sanhueza; Denisse Loader; María Teresa Rivera; Lorena Gutiérrez; Giuliano Bernal; Alejandro Ortega; Domingo Montalvo; Sergio Portiño; Maria Enriqueta Bertrán; Fernando Gabler; Loreto Spencer; Jordi Olloquequi; Rosa González Silos; Christine Fischer; Dominique Scherer; Mazda Jenab; Krasimira Aleksandrova; Verena Katzke; Elisabete Weiderpass; Tahereh Moradi; Krista Fischer; Willem Bossers; Hermann Brenner; Kristian Hveem; Niina Eklund; Uwe Völker; Melanie Waldenberger; Macarena Fuentes Guajardo; Rolando Gonzalez-Jose; Gabriel Bedoya; Maria C. Bortolini; Samuel Canizales; Carla Gallo; Andres Ruiz Linares; Francisco Rothhammer; Justo Lorenzo Bermejo

doi:10.1016/j.canep.2019.101643

ABCB1/4 gallbladder cancer risk variants identified in India also show strong effects in Chileans

Felix Boekstegers
, Katherine Marcelain
, Carol Barahona Ponce
, Pablo F. Baez Benavides
, Bettina Müller
, Gonzalo de Toro
, Javier Retamales
, Olga Barajas
, Monica Ahumada
, Erik Morales
, Armando Rojas
, Verónica Sanhueza
, Denisse Loader
, María Teresa Rivera
, Lorena Gutiérrez
, Giuliano Bernal
, Alejandro Ortega
, Domingo Montalvo
, Sergio Portiño
, Maria Enriqueta Bertrán

Fernando Gabler, Loreto Spencer, Jordi Olloquequi, Rosa González Silos, Christine Fischer, Dominique Scherer, Mazda Jenab, Krasimira Aleksandrova, Verena Katzke, Elisabete Weiderpass, Tahereh Moradi, Krista Fischer, Willem Bossers, Hermann Brenner, Kristian Hveem, Niina Eklund, Uwe Völker, Melanie Waldenberger, Macarena Fuentes Guajardo, Rolando Gonzalez-Jose, Gabriel Bedoya, Maria C. Bortolini, Samuel Canizales, Carla Gallo, Andres Ruiz Linares, Francisco Rothhammer, Justo Lorenzo Bermejo

Facultad de Ciencias e Ingeniería

Heidelberg University
Universidad de Chile
Instituto Nacional del Cáncer, Chile
Hospital de Puerto Montt
Hospital Clínico Universidad De Chile
Unidad de Anatomía Patológica del Hospital Regional de Talca
Catholic University of the Maule
Hospital Padre Hurtado
Hospital del Salvador
Hospital San Juan de Dios, Santiago de Chile
Universidad Católica del Norte
Hospital Regional
Hospital Juan Noe Crevani
Ministry of Health
Hospital Clínico “San Borja Arriarán”
Hospital Regional Guillermo Grant Benavente
Universidad Autónoma de Chile
International Agency for Research on Cancer
University of Potsdam
German Cancer Research Center
Karolinska Institutet
University of Tartu
The Lifelines Cohort Study
Norwegian University of Science and Technology
THL Finnish Institute for Health and Welfare
University Medicine Greifswald
German Research Center for Environmental Health
Instituto de Alta Investigación Universidad de Tarapacá
CENPAT-CONICET
Universidad de Antioquia
Universidade Federal do Rio Grande do Sul
UNAM
School of Life Sciences Fudan University

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18 Citas (Scopus)

Resumen

Background: The first large-scale genome-wide association study of gallbladder cancer (GBC) recently identified and validated three susceptibility variants in the ABCB1 and ABCB4 genes for individuals of Indian descent. We investigated whether these variants were also associated with GBC risk in Chileans, who show the highest incidence of GBC worldwide, and in Europeans with a low GBC incidence. Methods: This population-based study analysed genotype data from retrospective Chilean case-control (255 cases, 2042 controls) and prospective European cohort (108 cases, 181 controls) samples consistently with the original publication. Results: Our results confirmed the reported associations for Chileans with similar risk effects. Particularly strong associations (per-allele odds ratios close to 2) were observed for Chileans with high Native American (=Mapuche) ancestry. No associations were noticed for Europeans, but the statistical power was low. Conclusion: Taking full advantage of genetic and ethnic differences in GBC risk may improve the efficiency of current prevention programs.

Idioma original	Inglés
Número de artículo	101643
Publicación	Cancer Epidemiology
Volumen	65
DOI	https://doi.org/10.1016/j.canep.2019.101643
Estado	Publicada - abr. 2020

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Boekstegers, F., Marcelain, K., Barahona Ponce, C., Baez Benavides, P. F., Müller, B., de Toro, G., Retamales, J., Barajas, O., Ahumada, M., Morales, E., Rojas, A., Sanhueza, V., Loader, D., Rivera, M. T., Gutiérrez, L., Bernal, G., Ortega, A., Montalvo, D., Portiño, S., ... Lorenzo Bermejo, J. (2020). ABCB1/4 gallbladder cancer risk variants identified in India also show strong effects in Chileans. Cancer Epidemiology, 65, Artículo 101643. https://doi.org/10.1016/j.canep.2019.101643

@article{4d803d6fcc7140dda91eeb44931e4bb4,

title = "ABCB1/4 gallbladder cancer risk variants identified in India also show strong effects in Chileans",

abstract = "Background: The first large-scale genome-wide association study of gallbladder cancer (GBC) recently identified and validated three susceptibility variants in the ABCB1 and ABCB4 genes for individuals of Indian descent. We investigated whether these variants were also associated with GBC risk in Chileans, who show the highest incidence of GBC worldwide, and in Europeans with a low GBC incidence. Methods: This population-based study analysed genotype data from retrospective Chilean case-control (255 cases, 2042 controls) and prospective European cohort (108 cases, 181 controls) samples consistently with the original publication. Results: Our results confirmed the reported associations for Chileans with similar risk effects. Particularly strong associations (per-allele odds ratios close to 2) were observed for Chileans with high Native American (=Mapuche) ancestry. No associations were noticed for Europeans, but the statistical power was low. Conclusion: Taking full advantage of genetic and ethnic differences in GBC risk may improve the efficiency of current prevention programs.",

keywords = "Cancer epidemiology, Gallbladder cancer, Native American ancestry, Population-specific risk marker",

author = "Felix Boekstegers and Katherine Marcelain and \{Barahona Ponce\}, Carol and \{Baez Benavides\}, \{Pablo F.\} and Bettina M{\"u}ller and \{de Toro\}, Gonzalo and Javier Retamales and Olga Barajas and Monica Ahumada and Erik Morales and Armando Rojas and Ver{\'o}nica Sanhueza and Denisse Loader and Rivera, \{Mar{\'i}a Teresa\} and Lorena Guti{\'e}rrez and Giuliano Bernal and Alejandro Ortega and Domingo Montalvo and Sergio Porti{\~n}o and Bertr{\'a}n, \{Maria Enriqueta\} and Fernando Gabler and Loreto Spencer and Jordi Olloquequi and \{Gonz{\'a}lez Silos\}, Rosa and Christine Fischer and Dominique Scherer and Mazda Jenab and Krasimira Aleksandrova and Verena Katzke and Elisabete Weiderpass and Tahereh Moradi and Krista Fischer and Willem Bossers and Hermann Brenner and Kristian Hveem and Niina Eklund and Uwe V{\"o}lker and Melanie Waldenberger and \{Fuentes Guajardo\}, Macarena and Rolando Gonzalez-Jose and Gabriel Bedoya and Bortolini, \{Maria C.\} and Samuel Canizales and Carla Gallo and \{Ruiz Linares\}, Andres and Francisco Rothhammer and \{Lorenzo Bermejo\}, Justo",

note = "Publisher Copyright: {\textcopyright} 2020 The Authors",

year = "2020",

month = apr,

doi = "10.1016/j.canep.2019.101643",

language = "Ingl{\'e}s",

volume = "65",

journal = "Cancer Epidemiology",

issn = "1877-7821",

}

Boekstegers, F, Marcelain, K, Barahona Ponce, C, Baez Benavides, PF, Müller, B, de Toro, G, Retamales, J, Barajas, O, Ahumada, M, Morales, E, Rojas, A, Sanhueza, V, Loader, D, Rivera, MT, Gutiérrez, L, Bernal, G, Ortega, A, Montalvo, D, Portiño, S, Bertrán, ME, Gabler, F, Spencer, L, Olloquequi, J, González Silos, R, Fischer, C, Scherer, D, Jenab, M, Aleksandrova, K, Katzke, V, Weiderpass, E, Moradi, T, Fischer, K, Bossers, W, Brenner, H, Hveem, K, Eklund, N, Völker, U, Waldenberger, M, Fuentes Guajardo, M, Gonzalez-Jose, R, Bedoya, G, Bortolini, MC, Canizales, S, Gallo, C, Ruiz Linares, A, Rothhammer, F & Lorenzo Bermejo, J 2020, 'ABCB1/4 gallbladder cancer risk variants identified in India also show strong effects in Chileans', Cancer Epidemiology, vol. 65, 101643. https://doi.org/10.1016/j.canep.2019.101643

TY - JOUR

T1 - ABCB1/4 gallbladder cancer risk variants identified in India also show strong effects in Chileans

AU - Boekstegers, Felix

AU - Marcelain, Katherine

AU - Barahona Ponce, Carol

AU - Baez Benavides, Pablo F.

AU - Müller, Bettina

AU - de Toro, Gonzalo

AU - Retamales, Javier

AU - Barajas, Olga

AU - Ahumada, Monica

AU - Morales, Erik

AU - Rojas, Armando

AU - Sanhueza, Verónica

AU - Loader, Denisse

AU - Rivera, María Teresa

AU - Gutiérrez, Lorena

AU - Bernal, Giuliano

AU - Ortega, Alejandro

AU - Montalvo, Domingo

AU - Portiño, Sergio

AU - Bertrán, Maria Enriqueta

AU - Gabler, Fernando

AU - Spencer, Loreto

AU - Olloquequi, Jordi

AU - González Silos, Rosa

AU - Fischer, Christine

AU - Scherer, Dominique

AU - Jenab, Mazda

AU - Aleksandrova, Krasimira

AU - Katzke, Verena

AU - Weiderpass, Elisabete

AU - Moradi, Tahereh

AU - Fischer, Krista

AU - Bossers, Willem

AU - Brenner, Hermann

AU - Hveem, Kristian

AU - Eklund, Niina

AU - Völker, Uwe

AU - Waldenberger, Melanie

AU - Fuentes Guajardo, Macarena

AU - Gonzalez-Jose, Rolando

AU - Bedoya, Gabriel

AU - Bortolini, Maria C.

AU - Canizales, Samuel

AU - Gallo, Carla

AU - Ruiz Linares, Andres

AU - Rothhammer, Francisco

AU - Lorenzo Bermejo, Justo

PY - 2020/4

Y1 - 2020/4

N2 - Background: The first large-scale genome-wide association study of gallbladder cancer (GBC) recently identified and validated three susceptibility variants in the ABCB1 and ABCB4 genes for individuals of Indian descent. We investigated whether these variants were also associated with GBC risk in Chileans, who show the highest incidence of GBC worldwide, and in Europeans with a low GBC incidence. Methods: This population-based study analysed genotype data from retrospective Chilean case-control (255 cases, 2042 controls) and prospective European cohort (108 cases, 181 controls) samples consistently with the original publication. Results: Our results confirmed the reported associations for Chileans with similar risk effects. Particularly strong associations (per-allele odds ratios close to 2) were observed for Chileans with high Native American (=Mapuche) ancestry. No associations were noticed for Europeans, but the statistical power was low. Conclusion: Taking full advantage of genetic and ethnic differences in GBC risk may improve the efficiency of current prevention programs.

AB - Background: The first large-scale genome-wide association study of gallbladder cancer (GBC) recently identified and validated three susceptibility variants in the ABCB1 and ABCB4 genes for individuals of Indian descent. We investigated whether these variants were also associated with GBC risk in Chileans, who show the highest incidence of GBC worldwide, and in Europeans with a low GBC incidence. Methods: This population-based study analysed genotype data from retrospective Chilean case-control (255 cases, 2042 controls) and prospective European cohort (108 cases, 181 controls) samples consistently with the original publication. Results: Our results confirmed the reported associations for Chileans with similar risk effects. Particularly strong associations (per-allele odds ratios close to 2) were observed for Chileans with high Native American (=Mapuche) ancestry. No associations were noticed for Europeans, but the statistical power was low. Conclusion: Taking full advantage of genetic and ethnic differences in GBC risk may improve the efficiency of current prevention programs.

KW - Cancer epidemiology

KW - Gallbladder cancer

KW - Native American ancestry

KW - Population-specific risk marker

UR - https://www.scopus.com/pages/publications/85079033144

U2 - 10.1016/j.canep.2019.101643

DO - 10.1016/j.canep.2019.101643

M3 - Artículo

C2 - 32058310

AN - SCOPUS:85079033144

SN - 1877-7821

VL - 65

JO - Cancer Epidemiology

JF - Cancer Epidemiology

M1 - 101643

ER -

ABCB1/4 gallbladder cancer risk variants identified in India also show strong effects in Chileans

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