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.

Publication

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.

Journal Paper/Review - Apr 20, 2023

Akhlaghpour Marzieh, Haritunians Talin, More Shyam K, Thomas Lisa S, Stamps Dalton T, Dube Shishir, Li Dalin, Yang Shaohong, Landers Carol J, Mengesha Emebet, Hamade Hussein, Murali Ramachandran, Potdar Alka A, Wolf Andrea J, Botwin Gregory J, Khrom Michelle, International IBD Genetics Consortium, Ananthakrishnan Ashwin N, Faubion William A, Jabri Bana, Lira Sergio A, Newberry Rodney D, Sandler Robert S, Sartor R Balfour, Xavier Ramnik J, Brant Steven R, Cho Judy H, Duerr Richard H, Lazarev Mark G, Rioux John D, Schumm L Philip, Silverberg Mark S, Zaghiyan Karen, Fleshner Phillip, Melmed Gil Y, Vasiliauskas Eric A, Ha Christina, Rabizadeh Shervin, Syal Gaurav, Bonthala Nirupama N, Ziring David A, Targan Stephan R, Long Millie, McGovern Dermot P B, Michelsen Kathrin S, Brand Stephan

Citation

Akhlaghpour M, Haritunians T, More S, Thomas L, Stamps D, Dube S, Li D, Yang S, Landers C, Mengesha E, Hamade H, Murali R, Potdar A, Wolf A, Botwin G, Khrom M, International IBD Genetics Consortium, Ananthakrishnan A, Faubion W, Jabri B, Lira S, Newberry R, Sandler R, Sartor R, Xavier R, Brant S, Cho J, Duerr R, Lazarev M, Rioux J, Schumm L, Silverberg M, Zaghiyan K, Fleshner P, Melmed G, Vasiliauskas E, Ha C, Rabizadeh S, Syal G, Bonthala N, Ziring D, Targan S, Long M, McGovern D, Michelsen K, Brand S. 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; 72:2068-2080.

Type

Journal Paper/Review (English)

Journal

Gut 2023; 72

Publication Date

Apr 20, 2023

Issn Electronic

1468-3288

Pages

2068-2080

Brief description/objective

Perianal Crohn's disease (pCD) occurs in up to 40% of patients with CD and is associated with poor quality of life, limited treatment responses and poorly understood aetiology. We performed a genetic association study comparing CD subjects with and without perianal disease and subsequently performed functional follow-up studies for a pCD associated SNP in ().