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NOD2 in Crohn’s disease – unfinished business

NOD2 in Crohn’s disease – unfinished business
NOD2 in Crohn’s disease – unfinished business
Studies of Crohn’s disease consistently implicate NOD2 as the most important gene in disease pathogenesis since first being identified in 2001. Since this point, genome-wide association, next-generation sequencing, and functional analyses have all confirmed a key role for NOD2, but despite this, NOD2 also has significant unresolved complexity. More recent studies have reinvigorated an early hypothesis that NOD2 may be a single-gene cause of disease, and the distinct ileal stricturing phenotype seen with NOD2-related disease presents an opportunity for personalised diagnosis, disease prediction and targeted therapy.

The genomics of NOD2 has much that remains unknown, including the role of rare variation, phasing of variants across the haplotype block and the role of variation in the NOD2-regulatory regions. Here, we discuss the evidence and the unmet needs of NOD2-research, based on recently published evidence, and suggest methods that may meet these requirements.
1873-9946
Ashton, James
03369017-99b5-40ae-9a43-14c98516f37d
Seaby, Eleanor
ec948f42-007c-4bd8-9dff-bb86278bf03f
Beattie, Robert M
9a66af0b-f81c-485c-b01d-519403f0038a
Ennis, Sarah
7b57f188-9d91-4beb-b217-09856146f1e9
Ashton, James
03369017-99b5-40ae-9a43-14c98516f37d
Seaby, Eleanor
ec948f42-007c-4bd8-9dff-bb86278bf03f
Beattie, Robert M
9a66af0b-f81c-485c-b01d-519403f0038a
Ennis, Sarah
7b57f188-9d91-4beb-b217-09856146f1e9

Ashton, James, Seaby, Eleanor, Beattie, Robert M and Ennis, Sarah (2022) NOD2 in Crohn’s disease – unfinished business. Journal of Crohn's and Colitis. (doi:10.1093/ecco-jcc/jjac124).

Record type: Article

Abstract

Studies of Crohn’s disease consistently implicate NOD2 as the most important gene in disease pathogenesis since first being identified in 2001. Since this point, genome-wide association, next-generation sequencing, and functional analyses have all confirmed a key role for NOD2, but despite this, NOD2 also has significant unresolved complexity. More recent studies have reinvigorated an early hypothesis that NOD2 may be a single-gene cause of disease, and the distinct ileal stricturing phenotype seen with NOD2-related disease presents an opportunity for personalised diagnosis, disease prediction and targeted therapy.

The genomics of NOD2 has much that remains unknown, including the role of rare variation, phasing of variants across the haplotype block and the role of variation in the NOD2-regulatory regions. Here, we discuss the evidence and the unmet needs of NOD2-research, based on recently published evidence, and suggest methods that may meet these requirements.

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More information

Accepted/In Press date: 22 August 2022
e-pub ahead of print date: 25 August 2022

Identifiers

Local EPrints ID: 469755
URI: http://eprints.soton.ac.uk/id/eprint/469755
ISSN: 1873-9946
PURE UUID: 98b04382-4977-404a-b0cc-76eb7320fc3d
ORCID for James Ashton: ORCID iD orcid.org/0000-0003-0348-8198
ORCID for Eleanor Seaby: ORCID iD orcid.org/0000-0002-6814-8648
ORCID for Sarah Ennis: ORCID iD orcid.org/0000-0003-2648-0869

Catalogue record

Date deposited: 23 Sep 2022 17:19
Last modified: 24 Sep 2022 02:02

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Contributors

Author: James Ashton ORCID iD
Author: Eleanor Seaby ORCID iD
Author: Robert M Beattie
Author: Sarah Ennis ORCID iD

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