2015-10-06 18:45:00 UTC

Study Identifies New Genetic Defects that Cause Rare Cases of Very Early Onset IBD

Oct. 5, 2015

Defects in production of reactive oxygen species by intestinal epithelia cells can result in microbial dysbiosis and IBD.

A study in Cellular and Molecular Gastroenterology and Hepatology identifies novel mutations in two genes, NOX1 and DUOX2, in patients with very early onset IBD.

For this study, the authors performed genetic analysis of 209 patients with very early onset IBD and identified five patients with rare loss-of-function missense mutations in NOX1 or DUOX2. Importantly, these mutations were associated with reduced production of reactive oxygen species (ROS) and defective host resistance to the bacterial pathogen Campylobacter jejuni (figure).

This study is the first to link NOX1 variants to human disease, and establishes NOX1 and DUOX2 as risk genes for very early onset IBD. The authors conclude that defective intestinal epithelial ROS production is therefore a risk factor for the development of very early onset IBD, likely by impairing microbial defenses.

Although these genetic defects are rare, they provide new insight into mechanisms that may be more common in IBD and continue to define the genetic landscape and causes of IBD.

The full study and editorial are available in the current issue of AGA’s open-access journal, Cellular and Molecular Gastroenterology and Hepatology.

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