Perianal Crohn’s disease is a severe form of inflammatory bowel disease that affects the anal area, causing symptoms like pain and discharge and leading to complications such as abscesses and fistulas. Researchers at Cedars-Sinai have identified a specific genetic variant associated with this condition. This variant causes a loss of function in a protein called Complement Factor B (CFB), impairing the body’s ability to fight infections and manage bacteria effectively. This research, published in the journal “Gut,” highlights the significance of understanding genetic factors that contribute to this complex manifestation, as existing treatments are often ineffective and can lead to multiple surgeries.
The study utilized genetic data from over 4,000 patients with perianal Crohn’s disease and compared them with more than 11,000 without the complication. Researchers identified ten novel genetic loci linked to the condition, affirming the relevance of CFB in disease progression. Co-senior author Dermot McGovern noted that better understanding of these genetic mechanisms can pave the way for new treatment strategies, reflecting an important area of unmet medical needs. The researchers aim to explore additional genetic variants linked to perianal Crohn’s disease and other inflammatory bowel diseases.
