An extremes of phenotype approach confirms significant genetic heterogeneity in patients with ulcerative colitis.
Sally MortlockAnton LordGrant W MontgomeryMartha ZakrzewskiLisa A SimmsKrupa KrishnaprasadKatherine HaniganJames D DoeckeAlissa WalshIan C LawrancePeter A BamptonJane M AndrewsGillian MahySusan J ConnorMiles P SparrowSally BellTimothy H FlorinJacob BegunRichard B GearryGraham L Radford-SmithPublished in: Journal of Crohn's & colitis (2022)
Our MRUC subgroup replicates multiple known UC risk variants in contrast to non-MRUC and demonstrates significant differences in effect sizes compared to those published. Non-MRUC cases demonstrate lower ORs similar to those published. Additional risk and prognostic loci may be identified by targeted recruitment of individuals with severe disease.