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:
https://lup.lub.lu.se/record/e3cc4683-efe4-47de-a091-291384242383
- author
- Ferreira, Manuel A.
; Borg, Åke
LU
; Ellberg, Carolina
LU
and Olsson, Håkan
LU
- author collaboration
- organization
- publishing date
- 2019
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Nature Communications
- volume
- 10
- issue
- 1
- publisher
- Nature Publishing Group
- external identifiers
-
- scopus:85064432929
- pmid:30988301
- ISSN
- 2041-1723
- DOI
- 10.1038/s41467-018-08053-5
- language
- English
- LU publication?
- yes
- additional info
- Export Date: 2 May 2019
- id
- e3cc4683-efe4-47de-a091-291384242383
- date added to LUP
- 2019-05-02 14:20:24
- date last changed
- 2022-04-25 22:46:01
@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 = {{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}},
doi = {{10.1038/s41467-018-08053-5}},
volume = {{10}},
year = {{2019}},
}