Defining the impact of IL2RA genetic polymorphism on human immune cell function in ulcerative colitis

Summary

 Inflammatory bowel disease (IBD) can cause disabling symptoms, impaired quality of life, and serious complications. At present, even the best treatments fail to keep the disease under control for a third of patients. Developing new treatments is, therefore, vitally important.

Several hundred inherited genetic changes have been identified which put an individual at risk of developing IBD. However, the way in which each genetic change alters a person’s risk has been difficult to explain. Several hundred inherited genetic changes have been identified which put an individual at risk of developing IBD. However, the way in which each genetic change alters a person’s risk has been difficult to explain. Our researchers have recently discovered, with the help of Crohn’s disease (CD) patients and the IBD Bioresource, how one genetic change alters patients’ immune cell behaviour to put them at risk of developing CD. This work is helping to improve our understanding of which treatments may benefit patients with the genetic change, and which treatments might cause them harm.

Our research suggests that this genetic change may be having a similar effect in ulcerative colitis (UC) sufferers. We hope to repeat our experiments in patients with UC to understand whether the genetic change is causing the same alterations in immune cell behaviour. We aim to identify whether these UC patients could benefit from specific treatments targeted at the underlying immune cell problem – this is an approach known as ‘personalised medicine’, whereby individual treatments are tailored to patients most likely to benefit from them, and least likely to suffer unwanted side-effects.

We are asking for participation from UC patients with and without the genetic change, to enable us to compare the effects with those who do not have it. We are also asking for participation from healthy people with and without the genetic change, to enable us to compare patients and those without UC.

Participants will be asked to provide a sample of blood, from which we will extract immune cells to study in the laboratory .