A study finds that 3% of ulcerative colitis patients carry a specific genetic variant, 40% of which require major surgery within three years, compared to 9% without the variant. In a recent study published in the JAMA , a group of researchers identified biomarkers of severe ulcerative colitis through a Danish genome-wide association study (GWAS). Background Ulcerative colitis is a chronic, immune-mediated disease with rising incidence, creating a critical need to identify biomarkers that can help pinpoint subgroups requiring intensified monitoring and treatment to prevent recurrent hospitalizations and surgeries.
Further research is essential to refine these biomarkers for better risk assessment and targeted interventions in diverse patient populations. About the study Two source populations were used for the present study. The Center for Molecular Prediction of Inflammatory Bowel Disease (PREDICT) neonatal blood spot cohort (NBS) included individuals born in Denmark and diagnosed with ulcerative colitis from 1981 to 2022.
The North Denmark Biobank study (NorDIBD) was a population-based cohort from Northern Denmark, comprising patients diagnosed with inflammatory bowel disease between 1978 and 2020. To avoid duplicate data, one genotyped sample was randomly excluded for individuals present in both cohorts. Deoxyribonucleic Acid (DNA) was extracted from dried blood spots in NBS and full blood in NorDIBD using standard protocols.
These cohorts were linked to Danish healthcare r.