Biological Mechanism of Inflammatory Bowel Disease Affected by Genetic Variation

Summary

Inflammatory bowel disease (IBD) is a common condition affecting at least 250,000 people in the UK. IBD develops when the immune system in our intestines becomes inappropriately activated. However, what causes IBD is still not known and there is currently no cure. Researchers have identified hundreds of genetic markers that can subtly affect our individual risk of developing IBD. Identifying these ‘risk’ genes has been a promising step in understanding the mechanisms leading to IBD, which might ultimately lead to new treatments. Unfortunately, scientists still do not know the basic function of many of these risk associated genes. We set out to investigate the function of one such risk-gene, then called C13orf31. Our study, helped by investigating samples collected from volunteers in the BioResource, found that C13orf31 is a key controller of how immune cells called macrophages produce energy – with profound consequences for how cells respond to infection. On the basis of our findings, we have now called the protein encoded by C13orf31, ‘FAMIN’ or fatty acid metabolism-immunity nexus.

Participation: For this study we recruited 40 healthy volunteers from the Cambridge BioResource to attend a single appointment at our facilities on the Biomedical campus. Each volunteer gave a 45ml blood sample. Volunteers were split into two groups that were matched by age and gender.

Organisation: This study is organised by Professor Arthur Kaser from the Department of Medicine at the University of Cambridge. 

Publication: The results from this study have been published in the paper titled C13orf31 (FAMIN) is a central regulator of immunometabolic function, on August 1st 2016.