Large-scale exome sequencing study finds novel genes associated with Crohn's disease

September 6, 2022 - 10:00

A large-scale exome sequencing study with involvement of the IKMB has revealed ten genes for general onset Crohn's disease for the first time via association to coding variants. Sequencing of more than 30,000 patients with CD and 80,000 population controls led to the discovery of significant association of either a single variant or a significantly increased burden of very rare coding variants in CD patients. In addition to reiterating the central role of innate and adaptive immune cells as well as autophagy in CD pathogenesis, these newly associated genes highlight the emerging role of mesenchymal cells in the development and maintenance of intestinal inflammation. This study demonstrates the ability of large-scale exome sequencing to complement genome-wide association studies (GWAS) by pinpointing specific genes both indirectly implicated by GWAS as well as those not yet observed in GWAS.

Nature Genetics 2022 Aug 29; online ahead of print. PMID: 36038634

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