New genetic factors discovered for gut disease

Senior research sister Katy Morton with family participants

Two new genetic traits have been associated with inflammatory bowel disease (IBD) in children, increasing our understanding of how this complex condition comes about.

Researchers associated with the NIHR Southampton Biomedical Research Centre have discovered two new genetic changes underlying some types of childhood IBD. These results may help those children with these traits children get the right treatment for them.

A complex condition

IBD is a group of diseases including Crohn’s disease and ulcerative colitist, which see the gut to become sore and inflamed causing abdominal pain and digestive problems.

Its severity varies from patient to patient, and is thought to be a combination of genetic factors, altered immune response and the mix of bacteria types in the gut. 

Some rare cases of severe IBD have been associated with a change in a single gene, with additional symptoms such as skin problems, but full role of genetics in IBD is not fully understood.

Unpicking the genetics of IBD

In this study, published in the journal Inflammatory Bowel Diseases, Southampton researchers set out to identify changes in a single gene that could contribute to IBD in children.

Analysing genetic data from 147 children with IBD they discovered changes in two genes, FERMT1 and SKIV2L, which had never before been associated with the condition. 

We all inherit two copies of our genes, one form our mother and one from our fathers, often meaning changes to one copy are compensated for. Critically the researchers showed that some patients had developed IBD, despite only inheriting one changed copy.

Better understanding and care

These new results contribute to our understanding of IBD genetics, not least because all the genetic changes currently associated with IBD don't explain all the extent to which it is inherited. 

They could also inform genetic testing for IBD, so that more children can get a early diagnosis and treatment tailored to their speciifc form of IBD.

Posted on Thursday 22 September 2016