NOD2 in Crohn’s disease – unfinished business

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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Identifiers

ORCID for James Ashton: orcid.org/0000-0003-0348-8198

ORCID for Eleanor Seaby: orcid.org/0000-0002-6814-8648

ORCID for Sarah Ennis: orcid.org/0000-0003-2648-0869

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