Research led by the Aalborg University in Denmark shows that a specific genetic variant is able to predict individuals who are likely to develop more severe ulcerative colitis.
The researchers hope their findings will help guide treatment for the gastrointestinal autoimmune condition, which can be very variable in presentation.
The HLA-DRB1 gene encodes a protein that plays an important role in the immune system. There are a number of different variants of this gene and HLA-DRB1*01:03 has previously been linked to ulcerative colitis.
Ulcerative colitis is one of two main types of inflammatory bowel disorder, the other being Crohn’s disease. Ulcerative colitis affects the colon and rectum and those with the condition often experience bloody diarrhea and pain in the gut when the disease is active.
In many people with this condition the disease is manageable with medication and diet, but some have severe symptoms and can require major surgery.
In a study published this week in JAMA, lead author Marie Vibeke Vestergaard, a PhD student at the University of Aalborg, tested almost 5,000 people with ulcerative colitis to assess the impact of genetics on severity of their condition.
The study population came from the Danish Center for Molecular Prediction of Inflammatory Bowel Disease neonatal blood spot cohort and the North Denmark Biobank study, a population based cohort of patients from Northern Denmark with inflammatory bowel disease.
Vestergaard and her team found around 3% of people with ulcerative colitis had the HLA-DRB1*01:03 variant. Of these individuals, more than 40% had major surgery due to their condition within three years of diagnosis. This is in comparison with only 9% of ulcerative colitis patients who did not carry this genetic variant.
“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,” said Vestergaard in a press statement.
“This is a group of patients who are especially hard-hit by the disease. 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.”
