Advanced

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

, ; Ferreira, Manuel A.; Borg, Åke LU ; Ellberg, Carolina LU and Olsson, Håkan LU (2019) In Nature Communications 10(1).
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... (More)
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. © 2019, The Author(s). (Less)
Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Nature Communications
volume
10
issue
1
publisher
Nature Publishing Group
external identifiers
  • scopus:85064432929
ISSN
2041-1723
DOI
10.1038/s41467-018-08053-5
language
English
LU publication?
yes
id
e3cc4683-efe4-47de-a091-291384242383
date added to LUP
2019-05-02 14:20:24
date last changed
2019-05-21 04:21:16
@article{e3cc4683-efe4-47de-a091-291384242383,
  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. © 2019, The Author(s).},
  author       = {,  and Ferreira, Manuel A. and Borg, Åke and Ellberg, Carolina and Olsson, Håkan},
  issn         = {2041-1723},
  language     = {eng},
  number       = {1},
  publisher    = {Nature Publishing Group},
  series       = {Nature Communications},
  title        = {Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer},
  url          = {http://dx.doi.org/10.1038/s41467-018-08053-5},
  volume       = {10},
  year         = {2019},
}