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

Gut(2023)

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摘要
pCD-associated rs4151651 in 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.
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关键词
IBD - GENETICS,INFLAMMATORY BOWEL DISEASE,META-ANALYSIS
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