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Over 100 genes are associated with monogenic forms of inflammatory bowel disease (IBD). These genes affect the epithelial barrier function, innate and adaptive immunity in the intestine, and immune tolerance. We provide an overview of newly discovered monogenic IBD genes and illustrate how a recently proposed taxonomy model can integrate phenotypes and shared pathways. We discuss how functional understanding of genetic disorders and clinical genomics supports personalised medicine for patients with monogenic IBD.

Original publication

DOI

10.1007/s00439-022-02464-7

Type

Journal article

Journal

Human genetics

Publication Date

05/2023

Volume

142

Pages

599 - 611

Addresses

Translational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, Oxford, UK.

Keywords

Intestines, Humans, Inflammatory Bowel Diseases, Genetic Predisposition to Disease, Phenotype, Precision Medicine