Title
ABCB1/4 gallbladder cancer risk variants identified in India also show strong effects in Chileans
Date Issued
01 April 2020
Access level
open access
Resource Type
journal article
Author(s)
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.
Bertrán M.E.
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 M.C.
Canizales S.
Ruiz Linares A.
Rothhammer F.
Lorenzo Bermejo J.
Publisher(s)
Elsevier Ltd
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.
Volume
65
Language
English
OCDE Knowledge area
Oncología
Epidemiología
Genética, Herencia
Subjects
Scopus EID
2-s2.0-85079033144
PubMed ID
Source
Cancer Epidemiology
ISSN of the container
18777821
Sponsor(s)
This work was supported by the German Federal Ministry of Education and Research (BMBF , grant 01DN15021 and Open Access Post-Grant-Fund), the European Union (FP7 Research infrastructures) within the initiative “Biobanking and Biomolecular Research Infrastructure – Large Prospective Cohorts” (Collaborative study “Identification of biomarkers for gallbladder cancer risk prediction - Towards personalized prevention of an orphan disease”), Germany’s Excellence Initiative of Heidelberg University within the program “Mobilitaetsmaßnahmen im Rahmen internationaler Forschungskooperationen 2015–16”, the support program “Stiftungen und Preise” of the Ruprecht-Karls-Universitaet Heidelberg, the German Research Foundation (DFG, grant LO 2061/1 ) and the Biobank of University of Chile. The funders had no role in design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication.
Sources of information:
Directorio de Producción Científica
Scopus