- Grasberger, Helmut;
- Magis, Andrew;
- Sheng, Elisa;
- Conomos, Matthew;
- Zhang, Min;
- Garzotto, Lea;
- Hou, Guoqing;
- Bishu, Shrinivas;
- Nagao-Kitamoto, Hiroko;
- El-Zaatari, Mohamad;
- Kitamoto, Sho;
- Kamada, Nobuhiko;
- Stidham, Ryan;
- Akiba, Yasutada;
- Kaunitz, Jonathan;
- Haberman, Yael;
- Kugathasan, Subra;
- Denson, Lee;
- Omenn, Gilbert;
- Kao, John
A primordial gut-epithelial innate defense response is the release of hydrogen peroxide by dual NADPH oxidase (DUOX). In inflammatory bowel disease (IBD), a condition characterized by an imbalanced gut microbiota-immune homeostasis, DUOX2 isoenzyme is the highest induced gene. Performing multiomic analyses using 2872 human participants of a wellness program, we detected a substantial burden of rare protein-altering DUOX2 gene variants of unknown physiologic significance. We identified a significant association between these rare loss-of-function variants and increased plasma levels of interleukin-17C, which is induced also in mucosal biopsies of patients with IBD. DUOX2-deficient mice replicated increased IL-17C induction in the intestine, with outlier high Il17c expression linked to the mucosal expansion of specific Proteobacteria pathobionts. Integrated microbiota/host gene expression analyses in patients with IBD corroborated IL-17C as a marker for epithelial activation by gram-negative bacteria. Finally, the impact of DUOX2 variants on IL-17C induction provided a rationale for variant stratification in case control studies that substantiated DUOX2 as an IBD risk gene. Thus, our study identifies an association of deleterious DUOX2 variants with a preclinical hallmark of disturbed microbiota-immune homeostasis that appears to precede the manifestation of IBD.