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Genetic test could help personalise Crohn’s disease treatment

Updated: Nov 11, 2022

A genetic test has successfully predicted gut narrowing in patients, paving the way for more tailored management.

Some patients with Crohn’s disease develop strictures – narrowed sections of the gut caused by scar tissue. This can make it difficult for food to pass through and, if severe, may even cause a blockage.

Researchers at the NIHR Southampton Biomedical Research Centre, led by Professor Sarah Ennis, Professor of Genomics at the University of Southampton, have shown it’s possible to use the NOD2 gene to identify patients at high risk. This could help them and the healthcare professionals treating them to manage their condition better.

What is Crohn’s disease?

Crohn’s disease is a lifelong condition where parts of the digestive system become inflamed. It is a type of inflammatory bowel disease and affects people of all ages.

The main symptoms are diarrhoea, stomach aches and cramps, blood in poo, fatigue and weight loss. These usually start in childhood or early adulthood, and may be constant or come and go every few weeks or months. When they come back, it's called a flare-up.

There's no cure, but treatment can help reduce or control the symptoms. The exact cause of the disease is unknown, but certain genes are known to increase the risk of developing it.

Predicting who might get strictures

The researchers analysed clinical and genetic data from 373 children and 272 adults with Crohn’s disease. Using the presence of mutations within the NOD2 gene, they developed an algorithm which allocated each person to a high-risk group or a low-risk group.

They then tested this algorithm on a subgroup of 161 people with Crohn’s disease, to see how well it could predict who developed strictures. Of the 30 people in the high-risk group, 56.7 percent developed strictures. This compared to 21.4 percent of the of 131 people in the low-risk group.

Adding in extra details on the part of the gut affected by the disease improved the predictive ability of the algorithm further. The results are published in the journal Inflammatory Bowel Diseases.

Dr James Ashton, first author of the paper and Clinical Lecturer in Paediatric Gastroenterology and Genomics, says:

“People with Crohn’s disease can experience a wide range of symptoms, which vary greatly in their severity. Knowing the patients who will get significant complications is very challenging. This study shows NOD2 can help us predict which patients are most likely to develop strictures. If used in clinical care, this could help to personalise treatments for these patients.”


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