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 BertránFernando 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

    Research output: Contribution to journalArticle


    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.

    Original languageEnglish (US)
    Article number101643
    JournalCancer Epidemiology
    StatePublished - Apr 2020


    • Cancer epidemiology
    • Gallbladder cancer
    • Native American ancestry
    • Population-specific risk marker

    ASJC Scopus subject areas

    • Epidemiology
    • Oncology
    • Cancer Research

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  • Cite this

    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, [101643].