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

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
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.
1-18
Eccles, Diana
5b59bc73-11c9-4cf0-a9d5-7a8e523eee23
Ferreira, Manuel A.
cee20499-8e29-4164-a7b2-a2f47c8e3579
et al.
Eccles, Diana
5b59bc73-11c9-4cf0-a9d5-7a8e523eee23
Ferreira, Manuel A.
cee20499-8e29-4164-a7b2-a2f47c8e3579

Ferreira, Manuel A. , et al. (2019) Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer. Nature Communications, 10, 1-18, [1741]. (doi:10.1038/s41467-018-08053).

Record type: Article

Abstract

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.

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Accepted/In Press date: 14 December 2018
e-pub ahead of print date: 15 April 2019

Identifiers

Local EPrints ID: 430426
URI: http://eprints.soton.ac.uk/id/eprint/430426
PURE UUID: c901a93d-b209-49e0-afc4-590120c311e0
ORCID for Diana Eccles: ORCID iD orcid.org/0000-0002-9935-3169

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Date deposited: 30 Apr 2019 16:31
Last modified: 26 Nov 2021 05:13

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Contributors

Author: Diana Eccles ORCID iD
Author: Manuel A. Ferreira
Corporate Author: et al.

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