The DOI matches its Crossref record; 51 of the 51 references it cites were found in a registry or an index.
Breast cancer risk–associated SNPs modulate the affinity of chromatin for FOXA1 and alter gene expression
Open accessAbstract
Genome-wide association studies (GWAS) have identified thousands of SNPs that are associated with human traits and diseases. But, because the vast majority of these SNPs are located in non-coding regions of the genome, the mechanisms by which they promote disease risk have remained elusive. Employing a new methodology that combines cistromics, epigenomics and genotype imputation, we annotate the non-coding regions of the genome in breast cancer cells and systematically identify the functional nature of SNPs associated with breast cancer risk. Our results show that breast cancer risk–associated SNPs are enriched in the cistromes of FOXA1 and ESR1 and the epigenome of histone H3 lysine 4 monomethylation (H3K4me1) in a cancer- and cell type–specific manner. Furthermore, the majority of the risk-associated SNPs modulate the affinity of chromatin for FOXA1 at distal regulatory elements, thereby resulting in allele-specific gene expression, which is exemplified by the effect of the rs4784227 SNP on the TOX3 gene within the 16q12.1 risk locus.
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Model-based Analysis of ChIP-Seq (MACS)
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Cited by
Predicting effects of noncoding variants with deep learning–based sequence model
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The selection and function of cell type-specific enhancers
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Beyond GWASs: Illuminating the Dark Road from Association to Function
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Self-citationDriver and Passenger Mutations in Cancer
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Metadata
- Authors
- Cowper-Sal·lari, R., Zhang, X., Wright, J. B., Bailey, S. D., Cole, M. D., Eeckhoute, J., Moore, J. H., & Lupien, M.
- Venue
- Nature Genetics
- Published
- 2012-09-23
- Volume
- 44
- Issue
- 11
- Pages
- 1191-1198
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2152406028
- Cited by
- 355
- References
- 51
- FWCI
- 11.73
- Type
- journal article
- Language
- en
- Open access
- green
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