Aalborg University Researchers Discover Genetic Marker Linked to Severe Ulcerative Colitis, Paving the Way for Personalized Treatment

Aalborg University Researchers Discover Genetic Marker Linked to Severe Ulcerative Colitis, Paving the Way for Personalized Treatment

(IN BRIEF) Researchers have identified the genetic variant HLA-DRB1*01:03, which is strongly linked to severe ulcerative colitis. About 3% of patients carry this variant, and of those, over 40% required major surgery within three years of diagnosis.

(PRESS RELEASE) AALBORG, 17-Oct-2024 — /EuropaWire/ — Researchers at Aalborg University have made a significant discovery in the field of ulcerative colitis, identifying a genetic variant that can help predict which patients are likely to experience severe forms of the disease. This breakthrough, which has the potential to guide more personalized treatment approaches, was recently published in The Journal of the American Medical Association (JAMA). The study, conducted by the Center for Molecular Prediction of Inflammatory Bowel Disease (PREDICT), found that patients with the genetic variant HLA-DRB1*01:03 are at a much higher risk of requiring intensive treatment, including major surgery, compared to those without the variant.

Led by PhD student Marie Vibeke Vestergaard, the research revealed that 40% of patients carrying this genetic marker underwent major gastrointestinal surgery within three years of diagnosis, compared to just 9% of those who do not carry the variant. This finding could allow healthcare providers to identify high-risk patients early and intervene with more aggressive treatment options to prevent disease progression and improve patient outcomes.

Vestergaard emphasized the potential benefits of this discovery for both patients and healthcare systems. By targeting treatments based on genetic insights, doctors can move away from a trial-and-error approach, improving efficiency and reducing costs.

The research team, which includes Associate Professor Aleksejs Sazonovs, noted the substantial impact of Denmark’s unique health data resources in facilitating this discovery. While the findings are promising, the team stresses the need for further validation through external studies and clinical trials to assess the benefits of early intervention based on genetic profiling.

About Ulcerative colitis

Ulcerative colitis is a chronic inflammatory bowel disease, commonly affecting young individuals.

In the US alone, around 750,000 people are affected by the disease.

The severity and progression of the disease vary greatly from person to person. While some experience only mild symptoms, others endure more severe cases, involving frequent hospitalizations, changes in medications, and, in some instances, surgery to remove affected parts of the intestine.

In some patients, symptom-free periods may last for an extended time, but relapses are common. The unpredictable nature of the disease means it’s often unclear whether a particular treatment is effective.

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.”

Aleksejs 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.

Research Findings

Researchers have identified a specific genetic variant, HLA-DRB1*01:03, which is strongly associated with severe cases of ulcerative colitis. Around 3% of patients with ulcerative colitis carry this variant.

Among these individuals, over 40% required major gastrointestinal surgery within the first three years after diagnosis, compared to only 8% of those without the variant.

The scientific article, HLA-DRB101:03 and Severe Ulcerative Colitis, was authored by Marie Vibeke Vestergaard, Aleksejs Sazonovs, Tine Jess, Anne Krogh Nøhr, Kristine Allin, Lone Larsen, and Henrik Krarup, and published in JAMA on October 15, 2024.

About PREDICT
Denmark’s Basic Research Foundation has allocated DKK 68.5 million to support the Center for Molecular Prediction of Inflammatory Bowel Disease (PREDICT) at Aalborg University (AAU).

Media Contacts:

Marie Vibeke Vestergaard
PhD Student, Center for Molecular Prediction of Inflammatory Bowel Disease (PREDICT), Aalborg University
Tlf.: +45 42963689
Mail: marievv@dcm.aau.dk

Tine Jess
Center Director and Professor, Center for Molecular Prediction of Inflammatory Bowel Disease (PREDICT) Aalborg University
Tlf.: +45 2857 6038
E-mail: jess@dcm.aau.dk

SOURCE: Aalborg University