New genetic variant may predict severe ulcerative colitis in patients

Abdominal pain, diarrhea, and debilitating fatigue define the daily lives of millions of people worldwide who suffer from chronic bowel disease. Most of these individuals are diagnosed in their youth, and the disease's progression can vary significantly, leaving patients uncertain about what the future holds. For some, ulcerative colitis is a manageable condition, while for others, it leads to frequent hospitalizations, complex medication regimens, and multiple surgeries.

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, just published in the Journal of the American Medican AssociationJAMA, 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. 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.

"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.

Source:
Journal reference:

Vestergaard, M. V., et al. (2024). HLA-DRB1*01:03 and Severe Ulcerative Colitis. JAMA. doi.org/10.1001/jama.2024.20429.

Comments

The opinions expressed here are the views of the writer and do not necessarily reflect the views and opinions of News Medical.
Post a new comment
Post

While we only use edited and approved content for Azthena answers, it may on occasions provide incorrect responses. Please confirm any data provided with the related suppliers or authors. We do not provide medical advice, if you search for medical information you must always consult a medical professional before acting on any information provided.

Your questions, but not your email details will be shared with OpenAI and retained for 30 days in accordance with their privacy principles.

Please do not ask questions that use sensitive or confidential information.

Read the full Terms & Conditions.

You might also like...
First U.S. trial uses non-viral CRISPR to correct sickle cell mutation