Capture Hi-C identifies putative target genes at 33 breast cancer risk loci.
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Authors
Baxter, JS
Leavy, OC
Dryden, NH
Maguire, S
Johnson, N
Fedele, V
Simigdala, N
Martin, L-A
Andrews, S
Wingett, SW
Assiotis, I
Fenwick, K
Chauhan, R
Rust, AG
Orr, N
Dudbridge, F
Haider, S
Fletcher, O
Leavy, OC
Dryden, NH
Maguire, S
Johnson, N
Fedele, V
Simigdala, N
Martin, L-A
Andrews, S
Wingett, SW
Assiotis, I
Fenwick, K
Chauhan, R
Rust, AG
Orr, N
Dudbridge, F
Haider, S
Fletcher, O
Document Type
Journal Article
Date
2018-03-12
Date Accepted
2018-02-12
Abstract
Genome-wide association studies (GWAS) have identified approximately 100 breast cancer risk loci. Translating these findings into a greater understanding of the mechanisms that influence disease risk requires identification of the genes or non-coding RNAs that mediate these associations. Here, we use Capture Hi-C (CHi-C) to annotate 63 loci; we identify 110 putative target genes at 33 loci. To assess the support for these target genes in other data sources we test for associations between levels of expression and SNP genotype (eQTLs), disease-specific survival (DSS), and compare them with somatically mutated cancer genes. 22 putative target genes are eQTLs, 32 are associated with DSS and 14 are somatically mutated in breast, or other, cancers. Identifying the target genes at GWAS risk loci will lead to a greater understanding of the mechanisms that influence breast cancer risk and prognosis.
Citation
Nature communications, 2018, 9 (1), pp. 1028 - ?
Source Title
Publisher
NATURE PUBLISHING GROUP
ISSN
2041-1723
eISSN
2041-1723
Collections
Research Team
Complex Trait Genetics
Functional Genetic Epidemiology
Endocrinology
Functional Genetic Epidemiology
Endocrinology