Capture Hi-C identifies putative target genes at 33 breast cancer risk loci.
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Date
2018-03-12ICR Author
Author
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
Type
Journal Article
Metadata
Show full item recordAbstract
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.
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Subject
Humans
Breast Neoplasms
Genetic Predisposition to Disease
Epistasis, Genetic
Genotype
Mutation
Polymorphism, Single Nucleotide
Quantitative Trait Loci
Female
Genome-Wide Association Study
Research team
Complex Trait Genetics
Functional Genetic Epidemiology
Endocrinology
Language
eng
Date accepted
2018-02-12
License start date
2018-03-12
Citation
Nature communications, 2018, 9 (1), pp. 1028 - ?
Publisher
NATURE PUBLISHING GROUP