Genetic coding variant in complement factor B (CFB) is associated with increased risk for perianal Crohns disease and leads to impaired CFB cleavage and phagocytosis

Conclusion
pCD-associated rs4151651 in CFB is a loss-of-function mutation that impairs its cleavage, activation of alternative complement pathway, and pathogen phagocytosis thus implicating the alternative complement pathway and CFB in pCD aetiology.

Source: Gut - October 6, 2023 Category: Gastroenterology Authors: Akhlaghpour, M., Haritunians, T., More, S. K., Thomas, L. S., Stamps, D. T., Dube, S., Li, D., Yang, S., Landers, C. J., Mengesha, E., Hamade, H., Murali, R., Potdar, A. A., Wolf, A. J., Botwin, G. J., Khrom, M., International IBD Genetics Consortium, Ana Tags: Gut Inflammatory bowel disease Source Type: research