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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.
Akhlaghpour M, Haritunians T, More SK, Thomas LS, Stamps DT, Dube S, Li D, Yang S, Landers CJ, Mengesha E, Hamade H, Murali R, Potdar AA, Wolf AJ, Botwin GJ, Khrom M; International IBD Genetics Consortium; Ananthakrishnan AN, Faubion WA, Jabri B, Lira SA, Newberry RD, Sandler RS, Sartor RB, Xavier RJ, Brant SR, Cho JH, Duerr RH, Lazarev MG, Rioux JD, Schumm LP, Silverberg MS, Zaghiyan K, Fleshner P, Melmed GY, Vasiliauskas EA, Ha C, Rabizadeh S, Syal G, Bonthala NN, Ziring DA, Targan SR, Long MD, McGovern DPB, Michelsen KS. Akhlaghpour M, et al. Gut. 2023 Nov;72(11):2068-2080. doi: 10.1136/gutjnl-2023-329689. Epub 2023 Apr 20. Gut. 2023. PMID: 37080587 Free PMC article.
IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes.
Momozawa Y, Dmitrieva J, Théâtre E, Deffontaine V, Rahmouni S, Charloteaux B, Crins F, Docampo E, Elansary M, Gori AS, Lecut C, Mariman R, Mni M, Oury C, Altukhov I, Alexeev D, Aulchenko Y, Amininejad L, Bouma G, Hoentjen F, Löwenberg M, Oldenburg B, Pierik MJ, Vander Meulen-de Jong AE, Janneke van der Woude C, Visschedijk MC; International IBD Genetics Consortium; Lathrop M, Hugot JP, Weersma RK, De Vos M, Franchimont D, Vermeire S, Kubo M, Louis E, Georges M. Momozawa Y, et al. Nat Commun. 2018 Jun 21;9(1):2427. doi: 10.1038/s41467-018-04365-8. Nat Commun. 2018. PMID: 29930244 Free PMC article.