Unraveling the Mystery Behind Ulcerative Colitis Severity

Danish researchers have made a breakthrough in understanding why ulcerative colitis manifests more severely in some patients, offering hope for personalized medicine, as published in the Journal of the American Medical Association, JAMA (1^✔ ✔Trusted Source
HLA-DRB1*01:03 and Severe Ulcerative Colitis

Go to source). Ulcerative colitis, a chronic bowel disease characterized by abdominal pain, diarrhea, and fatigue, affects millions worldwide, most of whom are diagnosed at a young age.

While some patients manage the condition with relative ease, others face severe complications, frequent hospitalizations, and extensive treatments, making the progression of the disease unpredictable.

Now, researchers from the Center for Molecular Prediction of Inflammatory Bowel Disease (PREDICT) at Aalborg University, have identified a genetic variant that may help predict which patients are likely to develop severe ulcerative colitis.

Their study could guide more targeted treatment strategies.

"We have long known about this gene and its connection to colitis. However, we have now demonstrated that the same gene can predict whether a patient will require more intensive treatment, including higher medication doses or major surgery. This knowledge is critical as we aim to tailor treatments more effectively," says PhD student and lead author, Marie Vibeke Vestergaard.

More Aggressive Treatment from the Outset

The study, which analyzed both genetic data and Danish health records, found that around three percent of patients with ulcerative colitis carry a specific genetic variant – HLA-DRB1*01:03.

Advertisement

Among this group, over 40 percent underwent major gastrointestinal surgery within the first three years of diagnosis—compared to only nine percent of those without the variant.

“This is a group of patients who are especially hard-hit by the disease,” says Vestergaard.

Advertisement

“In cases of ulcerative colitis, early intervention is essential to prevent the disease from progressing and damaging the intestines. Our hope is that this discovery will allow doctors to closely monitor these patients from the very start, potentially administering more aggressive treatment early on.”

Vestergaard explains that preventing disease progression could not only improve patient outcomes but also reduce societal healthcare costs.

“By targeting treatment more precisely from the beginning, we can avoid the inefficiencies of trial-and-error approaches,” she adds.

A Significant Genetic Effect

Head of Genomics at PREDICT, Associate Professor Aleksejs Sazonovs, was surprised by the strength of the findings, noting the substantial impact of a single genetic variant.

"I’m extremely proud of the work we’ve done at PREDICT, demonstrating how Denmark’s unique health data and biobank resources can benefit patients worldwide. As rates of inflammatory bowel diseases continue to rise in Western countries, the more we understand about the underlying genetics, the better we can treat and prevent these conditions."

Sazonovs emphasized that while the results are promising, they must be validated through external studies. The next step will involve clinical trials to assess the impact of intensified monitoring and early treatment in patients with the genetic variant.

Reference:

1. HLA-DRB1*01:03 and Severe Ulcerative Colitis - (https://jamanetwork.com/journals/jama/fullarticle/2825074)

Source-Eurekalert