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.
Marzieh AkhlaghpourTalin HarituniansShyam K MoreLisa S ThomasDalton T StampsShishir DubeDalin LiShaohong YangCarol J LandersEmebet MengeshaHussein HamadeRamachandran MuraliAlka A PotdarAndrea J WolfGregory J BotwinMichelle Khromnull nullAshwin N AnanthakrishnanWilliam A FaubionBana JabriSergio A LiraRodney D NewberryRobert S SandlerR Balfour SartorRamnik J XavierSteven R BrantJudy H ChoRichard H DuerrMark G LazarevJohn D RiouxL Philip SchummMark S SilverbergKaren ZaghiyanPhillip FleshnerGil Y MelmedEric A VasiliauskasChristina HaShervin RabizadehGaurav SyalNirupama N BonthalaDavid A ZiringStephan R TarganMillie D LongDermot P B McGovernKathrin S MichelsenPublished in: Gut (2023)
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.