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Recent advances in basic science
Non-coding DNA in IBD: from sequence variation in DNA regulatory elements to novel therapeutic potential
  1. Claartje Aleid Meddens,
  2. Amy Catharina Johanna van der List,
  3. Edward Eelco Salomon Nieuwenhuis,
  4. Michal Mokry
  1. Division of Pediatrics, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht, The Netherlands
  1. Correspondence to Michal Mokry, Division of Pediatrics, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht 85090, The Netherlands; m.mokry{at}umcutrecht.nl

Abstract

Genome-wide association studies have identified over 200 loci associated with IBD. We and others have recently shown that, in addition to variants in protein-coding genes, the majority of the associated loci are related to DNA regulatory elements (DREs). These findings add a dimension to the already complex genetic background of IBD. In this review we summarise the existing evidence on the role of DREs in IBD. We discuss how epigenetic research can be used in candidate gene approaches that take non-coding variants into account and can help to pinpoint the essential pathways and cell types in the pathogenesis of IBD. Despite the increased level of genetic complexity, these findings can contribute to novel therapeutic options that target transcription factor binding and enhancer activity. Finally, we summarise the future directions and challenges of this emerging field.

  • Ibd - genetics
  • gene regulation
  • genetic polymorphisms
  • gastrointestinal pathology
  • gene targeting

This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.

https://doi.org/10.1136/gutjnl-2018-317516

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    Footnotes

    • Contributors CAM performed the literature search and was involved in writing the manuscript. ACJvdL performed the literature search and was involved in writing the manuscript. EESN supervised the project and was involved in writing and editing the manuscript. MM supervised the project and was involved in writing and editing the manuscript.

    • Funding This work was supported by the Alexandre Suerman Stipendium (2014) through CAM and WKZ Funds (2012) through MM.

    • Competing interests None declared.

    • Patient consent Not required.

    • Provenance and peer review Not commissioned; externally peer reviewed.