Медицинская библиотека · Cancer epidemiology · 2020

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

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

СтатьяМногоцентровое исследованиеПоддержка исследования: вне правительства СШАПеревод пока не подготовлен

Аннотация

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.

Для цитирования: Boekstegers Felix, Marcelain Katherine, Barahona Ponce Carol, Baez Benavides Pablo F, Müller Bettina, de Toro Gonzalo, Retamales Javier, Barajas Olga, Ahumada Monica, Morales Erik, Rojas Armando, Sanhueza Verónica, Loader Denisse, Rivera María Teresa, Gutiérrez Lorena, Bernal Giuliano, Ortega Alejandro, Montalvo Domingo, Portiño Sergio, Bertrán Maria Enriqueta, Gabler Fernando, Spencer Loreto, Olloquequi Jordi, González Silos Rosa, Fischer Christine, Scherer Dominique, Jenab Mazda, Aleksandrova Krasimira, Katzke Verena, Weiderpass Elisabete, Moradi Tahereh, Fischer Krista, Bossers Willem, Brenner Hermann, Hveem Kristian, Eklund Niina, Völker Uwe, Waldenberger Melanie, Fuentes Guajardo Macarena, Gonzalez-Jose Rolando, Bedoya Gabriel, Bortolini Maria C, Canizales Samuel, Gallo Carla, Ruiz Linares Andres, Rothhammer Francisco, Lorenzo Bermejo Justo. ABCB1/4 gallbladder cancer risk variants identified in India also show strong effects in Chileans.. Cancer epidemiology. 2020. DOI: 10.1016/j.canep.2019.101643.

Предметные рубрики MeSH

ATP Binding Cassette Transporter, Subfamily B Adult Aged Aged, 80 and over Case-Control Studies Chile Europe Female Gallbladder Neoplasms Genetic Association Studies Genetic Predisposition to Disease Humans Indians, South American Male Middle Aged Polymorphism, Single Nucleotide Prospective Studies Retrospective Studies White People

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