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Enhancers looping to target genes

Nature Genetics volume 49, pages 1564–1565 (2017)Cite this article

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High-resolution maps of enhancer–promoter interactions in rare primary human T cell subsets and coronary artery smooth muscle cells link variants associated with autoimmune and cardiovascular diseases to target genes. This represents an important step forward for mapping genes involved in complex diseases.

The first successful genome-wide association study (GWAS) raised the question of what genes are the targets of the identified disease risk variants. GWAS have mapped thousands of variants associated with a range of phenotypes, from biometric traits to complex immune diseases1. Despite this success, it has been a major challenge to translate the associated variants into molecular mechanisms2. As the vast majority of disease-associated variants fall outside of protein-coding sequence, something conceptually as simple as assigning disease variants to their target genes has been a major challenge for geneticists. To overcome this problem, different approaches have been taken: nomination of a candidate gene on the basis of functional relevance to disease biology, reporting of the nearest gene to the variant or claiming a gene for which the same variant affects gene expression (that is, is an expression quantitative trait locus (eQTL)). All of these approaches, however, lack a direct link between the associated variant and target gene. Howard Chang, William Greenleaf and colleagues3 generated a high-resolution map of enhancer–promoter interactions in rare disease-relevant cell types, thus mapping physical interactions between regulatory elements containing variants associated with autoimmune and cardiovascular diseases and target genes.

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References

  1. Welter, D. et al. Nucleic Acids Res. 42, D1001–D1006 (2014).

    Article  CAS  Google Scholar 

  2. Glinos, D.A. et al. Immunology http://dx.doi.org/10.1111/imm.12796 (2017).

  3. Mumbach, M.R. et al. Nat. Genet. 49, 1602–1612 (2017).

    Article  CAS  Google Scholar 

  4. Pombo, A. & Dillon, N. Nat. Rev. Mol. Cell Biol. 16, 245–257 (2015).

    Article  CAS  Google Scholar 

  5. Mumbach, M.R. et al. Nat. Methods 13, 919–922 (2016).

    Article  CAS  Google Scholar 

  6. Farh, K.K. et al. Nature 518, 337–343 (2015).

    Article  CAS  Google Scholar 

  7. Trynka, G. et al. Nat. Genet. 45, 124–130 (2013).

    Article  CAS  Google Scholar 

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  1. Wellcome Trust Sanger Institute, Cambridge, UK

    Gosia Trynka

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  1. Gosia Trynka
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Correspondence to Gosia Trynka.

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Trynka, G. Enhancers looping to target genes. Nat Genet 49, 1564–1565 (2017). https://doi.org/10.1038/ng.3982

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