Elsevier

Cancer Epidemiology

Volume 65, April 2020, 101643
Cancer Epidemiology

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

https://doi.org/10.1016/j.canep.2019.101643Get rights and content
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Highlights

  • Genetic variants in ABCB1/4 are associated with gallbladder cancer risk in Chileans.

  • Conferred risk effects and allele frequencies were similar in Chile and North India.

  • Chileans with large proportions of Mapuche ancestry showed strong associations.

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.

Abbreviations

CI
95 % confidence interval
GBC
gallbladder cancer
LD
linkage disequilibrium
OR
per-allele odds ratio
RAF
risk allele frequency
SNP
single nucleotide polymorphisms

Keywords

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

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1

These authors contributed equally to this work.