A genetic variant that doubles an individual’s risk of developing ulcerative colitis has been identified by researchers, it is announced today.
In what is the largest whole-genome inflammatory bowel disease genetic study to date, the research team, from the Wellcome Trust, studied the genomes of 16,000 patients in the UK, plus a further 10,000 from a previously published international study.
Writing in Nature Genetics, they identified a rare genetic variant that doubles the risk of ulcerative colitis. It affects a gene known as ADCY7 and is one of the strongest genetic risk factors associated with ulcerative colitis to date and presents a novel drug target for IBD.
The publication also features a second study that has identified a family of proteins, integrins, as playing a key role in increasing the risk of IBD, demonstrating 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.
Now, the Sanger Institute scientists, with UK IBD BioResource, are aiming to sequence 25,000 genomes of IBD patients over the next five years in the hope of revealing further details of the biology of the condition.
Dr Miles Parkes, co-author of the studies and consultant gastroenterologist at Addenbrooke’s Hospital, Cambridge, said: “Whilst there are challenges in recruiting large numbers of patients to IBD studies and interpreting the resulting volume of data, there are also great opportunities to better understand the role of genetic variation in not only risk of disease but also in treatment and prognosis.
"The IBD Bioresource will drive recruitment of IBD patients across the UK and allow recall of patients for repeat tests so the function of specific genes behind inflammatory bowel disease can be explored.”
Dr Carl Anderson, a lead author from the Wellcome Trust Sanger Institute said: “The scale of these collaborations means we are able to spot genetic associations to IBD that we hadn’t seen previously. We hope that by continuing to work together we will be able to translate these findings into better treatments for IBD patients."
de Lange K et al. Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. Nature Genetics 30 January 2017; doi:10.1038/ng.3760
Luo Y et al. Exploring the genetic architecture of inflammatory bowel disease by whole genome sequencing identifies association at ADCY7. Nature Genetics. January 2017. DOI 10.1038/ng.3761
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