In two studies published today in Nature Genetics, researchers from the Wellcome Trust Sanger Institute and fellow collaborators have identified a genetic variant that doubles an individual’s likelihood of developing ulcerative colitis.

The researchers studied the genomes of some 16,000 UK Inflammatory Bowel Disease (IBD) sufferers, as well as a further 10,000 genomes from a previously published international study. This makes it the largest IBD study to date.

In the first of the two papers which included 5 percent of IBD sufferers nationwide, identified a rare genetic variant that doubles the risk of ulcerative colitis. The variant itself affects a gene known as ADCY7, and is carried by 1 in 200 people in the UK. It is one of the strongest genetic risk factors associated with ulcerative colitis to date and presents a novel drug target for IBD.

In addition to this, they identified a further 25 novel genetic associations to IBD risk, of which several implicate genes that are related to a class of therapeutics that have previously shown promise in the treatment of this disease.

The second study identified a family of proteins called intergrins which play a key role in the risk of developing IBD. The integrins are transmembrane proteins that act as bridges for interactions between cells from the immune system and the rest of the body and it is these interactions that have shown susceptibility to drugs and will hopefully target the inflammation associated with IBD. The study also demonstrated that genetic variants that increase the risk of developing IBD also increase the expression of certain integrins in response to stimulation of the immune system.

In the future, Sanger Institute scientists, with help from the UK IBD BioResource, are aiming to sequence 25,000 genomes of IBD patients in the next five years. The unprecedented scale of this study will hopefully reveal even more details of the biology of this condition.

The results from these studies will be translated into potential treatments by Open Targets, an initiative that takes the outputs of the genetic studies and works with pharmaceutical companies to aid the development of new treatments for diseases including IBD.

Data for these studies can be found at the EGA under

https://ega-archive.org/studies/EGAS00001000065

https://ega-archive.org/studies/EGAS00001000329

https://ega-archive.org/studies/EGAS00001000924

And to apply for access please contact datasharing@sanger.ac.uk