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Refined genomic localization and ethnic differences observed for the IBD5 association with Crohn's disease.
Silverberg MS, Duerr RH, Brant SR, Bromfield G, Datta LW, Jani N, Kane SV, Rotter JI, Philip Schumm L, Hillary Steinhart A, Taylor KD, Yang H, Cho JH, Rioux JD, Daly MJ; NIDDK IBD Genetics Consortium. Silverberg MS, et al. Among authors: hillary steinhart a. Eur J Hum Genet. 2007 Mar;15(3):328-35. doi: 10.1038/sj.ejhg.5201756. Epub 2007 Jan 10. Eur J Hum Genet. 2007. PMID: 17213842
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.