ePrints

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Lookup NU author(s): Alexander Henderson

Downloads

• Published version [.pdf]

Licence

This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).

Abstract

© 2019, The Author(s). Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue and immune cells from blood and spleen. Using expression quantitative trait loci (eQTL) reported in these tissues, we identify 26 previously unreported, likely target genes of overall breast cancer risk variants, and 17 for estrogen receptor (ER)-negative breast cancer, several with a known immune function. We determine the directional effect of gene expression on disease risk measured based on single and multiple eQTL. In addition, using a gene-based test of association that considers eQTL from multiple tissues, we identify seven (and four) regions with variants associated with overall (and ER-negative) breast cancer risk, which were not reported in previous GWAS. Further investigation of the function of the implicated genes in breast and immune cells may provide insights into the etiology of breast cancer.

Publication metadata

Author(s): Ferreira MA, et al

Publication type: Article

Publication status: Published

Journal: Nature Communications

Year: 2019

Volume: 10

Online publication date: 15/04/2019

Acceptance date: 14/12/2018

Date deposited: 01/05/2019

ISSN (electronic): 2041-1723

Publisher: Nature Publishing Group

URL: https://doi.org/10.1038/s41467-018-08053-5

DOI: 10.1038/s41467-018-08053-5

Altmetrics

Share