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

Cancer Epidemiol. 2020 Apr:65:101643. doi: 10.1016/j.canep.2019.101643. Epub 2020 Feb 10.

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.

Keywords: Cancer epidemiology; Gallbladder cancer; Native American ancestry; Population-specific risk marker.

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

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

Substances

  • ABCB1 protein, human
  • ATP Binding Cassette Transporter, Subfamily B
  • multidrug resistance protein 3