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

MA Ferreira; ER Gamazon; F Al-Ejeh; K Aittomäki; IL Andrulis; H Anton-Culver; A Arason; V Arndt; KJ Aronson; BK Arun; E Asseryanis; J Azzollini; J Balmaña; DR Barnes; D Barrowdale; MW Beckmann; S Behrens; J Benitez; M Bermisheva; K Białkowska; C Blomqvist; NV Bogdanova; SE Bojesen; MK Bolla; A Borg; H Brauch; H Brenner; A Broeks; B Burwinkel; T Caldés; MA Caligo; D Campa; I Campbell; F Canzian; J Carter; BD Carter; JE Castelao; J Chang-Claude; SJ Chanock; H Christiansen; WK Chung; KBM Claes; CL Clarke; J Adlard; M Ahmed; J Barwell; A Brady; C Brewer; J Cook; R Davidson; A Donaldson; J Eason; R Eeles; DG Evans; H Gregory; H Hanson; A Henderson; S Hodgson; L Izatt; MJ Kennedy; F Lalloo; C Miller; PJ Morrison; KR Ong; J Perkins; ME Porteous; MT Rogers; LE Side; K Snape; L Walker; PA Harrington; N Arnold; B Auber; N Bogdanova-Markov; J Borde; A Caliebe; N Ditsch; B Dworniczak; S Engert; U Faust; A Gehrig; E Hahnen; J Hauke; J Hentschel; N Herold; E Honisch; W Just; K Kast; M Larsen; J Lemke; HP Nguyen; D Niederacher; CE Ott; K Platzer; E Pohl-Rescigno; J Ramser; K Rhiem; D Steinemann; C Sutter; R Varon-Mateeva

Journal article

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

MA Ferreira, ER Gamazon, F Al-Ejeh, K Aittomäki, IL Andrulis, H Anton-Culver, A Arason, V Arndt, KJ Aronson, BK Arun, E Asseryanis, J Azzollini, J Balmaña, DR Barnes, D Barrowdale, MW Beckmann, S Behrens, J Benitez, M Bermisheva, K Białkowska Show all

Nature Communications | Published : 2019

DOI: 10.1038/s41467-018-08053-5

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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..

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