Wu, L;
Shi, W;
Long, J;
Guo, X;
Michailidou, K;
Beesley, J;
Bolla, MK;
... Gabrielson, M; + view all
(2018)
A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer.
Nature Genetics
, 50
pp. 968-978.
10.1038/s41588-018-0132-x.
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Abstract
The breast cancer risk variants identified in genome-wide association studies explain only a small fraction of the familial relative risk, and the genes responsible for these associations remain largely unknown. To identify novel risk loci and likely causal genes, we performed a transcriptome-wide association study evaluating associations of genetically predicted gene expression with breast cancer risk in 122,977 cases and 105,974 controls of European ancestry. We used data from the Genotype-Tissue Expression Project to establish genetic models to predict gene expression in breast tissue and evaluated model performance using data from The Cancer Genome Atlas. Of the 8,597 genes evaluated, significant associations were identified for 48 at a Bonferroni-corrected threshold of P < 5.82 × 10−6, including 14 genes at loci not yet reported for breast cancer. We silenced 13 genes and showed an effect for 11 on cell proliferation and/or colony-forming efficiency. Our study provides new insights into breast cancer genetics and biology.
| Type: | Article |
|---|---|
| Title: | A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1038/s41588-018-0132-x |
| Publisher version: | https://doi.org/10.1038/s41588-018-0132-x |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | eQTL, genetics, breast cancer, gene expression, GWAS, susceptibility |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Inst of Clinical Trials and Methodology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Inst of Clinical Trials and Methodology > MRC Clinical Trials Unit at UCL |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10051028 |
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