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Boekstegers, F.* ; Marcelain, K.* ; Ponce, C.B.* ; 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.* ; Gutierrez, L.* ; Bernal, G.* ; Ortega, A.* ; Montalvo, D.* ; Portino, S.* ; Bertran, M.E.* ; Gabler, F.* ; Spencer, L.* ; Olloquequi, J.* ; Gonzalez 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.* ; Gallo, C.* ; Ruiz Linares, A.* ; Rothhammer, F.* ; Bermejo, J.L.*

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

Cancer Epidemiol. 65:101643 (2020)
Publ. Version/Full Text Research data DOI PMC
Open Access Gold (Paid Option)
Creative Commons Lizenzvertrag
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.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords Gallbladder Cancer ; Population-specific Risk Marker ; Cancer Epidemiology ; Native American Ancestry; Deficiency
ISSN (print) / ISBN 1877-7821
e-ISSN 1877-783X
Journal Cancer epidemiology
Quellenangaben Volume: 65, Issue: , Pages: , Article Number: 101643 Supplement: ,
Publisher Elsevier
Publishing Place Amsterdam
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Epidemiology II (EPI2)