Researchers who conducted the largest ever genetic study into inflammatory bowel disease have identified a genetic variant that doubles a person’s risk of developing ulcerative colitis.
This exciting discovery is helping scientists move closer to understanding what causes the chronic condition and opens up new possibilities for more effective treatment in the future.
What is IBD?
Inflammatory bowel disease is the umbrella term for ulcerative colitis and Crohn’s disease, two lifelong conditions, which cause the body’s own immune system to attack parts of the digestive tract resulting in a range of symptoms including pain, bloating, diarrhoea, constipation and some potentially serious complications.
Currently, doctors don’t fully understand the cause of the disease and there is no cure.
The role of genetics in IBD
This new study moves them a step closer to understanding the role that someone’s genes might play in whether or not they develop the condition. The researchers also made further genetic discoveries that could lead to a new generation of therapeutic treatments which might help to alleviate some of the distressing symptoms of ulcerative colitis and Crohn’s.
More than 300,000 people suffer from IBD in the UK, although the actual number may be higher. It is nicknamed the silent disease as it is believed that a large number of people with the condition are undiagnosed.
Largest ever study
Researchers from The Wellcome Trust Sanger Institute studied the genomes of 16,000 people with IBD in the UK. They also looked at a further 10,000 from a previously published international study making this the largest genetic study ever conducted.
It studied around 5% of IBD sufferers nationwide. The rare genetic variant that can double someone’s risk of developing ulcerative colitis affects a gene called ADCY7. It is carried by one in every 200 people in the UK. By understanding the role played by ADCY7, scientists can now begin researching drugs that could specifically target this genetic variant. It is too early to talk of a cure but this knowledge may lead to more effective treatments to control symptoms.
The same research team found that a family of proteins called integrins are also affected by this genetic variant and play a significant role in increasing the risk of IBD. Integrins act as bridges between immune system cells and other cells in the body, helping to facilitate interactions. Anti-integrin drugs that target some of these interactions have been shown to be effective in treating some of the inflammation caused by IBD and more research in this area is needed.
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Current IBD treatments
IBD affects more than 300,000 people in the UK. Currently, treatment depends on how severe the symptoms are and how much of the gut is affected.
A range of drugs are used to treat IBD and reduce inflammation but if these are not effective, surgery may be necessary. IBD is a lifelong condition and sufferers tend to have periods when their symptoms are more active and when they are in remission.
Scientists from the Sanger Institute, with the help of UK IBD BioResource, are planning to sequence 25,000 genomes of IBD patients over the next five years.
This will give them even more insights into the condition and, ultimately, will translate into more effective treatments and a better quality of life for sufferers.