Supplementary Figure 4: Relationship between transcriptional risk scores and location of inflammation. | Nature Genetics

Supplementary Figure 4: Relationship between transcriptional risk scores and location of inflammation.

From: Transcriptional risk scores link GWAS to eQTLs and predict complications in Crohn's disease

Supplementary Figure 4

Because the Paris classification of pediatric Crohn’s disease includes location of disease, which was strongly correlated with the degree of inflammation in the ileum from which biopsies were obtained, we plot here the relationship between disease location and the 29-gene coloc-derived TRS. RISK study patients were classified into two categories according to the presence/absence of visible ileal inflammation in endoscopies performed at diagnosis (L1 (ileum-only) and L3 (ileocolonic) cases were classified as ‘inflamed’; L2 (colonic-only) cases were classified as ‘non-inflamed’). Only two of the cases that progressed to complicated disease were non-inflamed, which are not shown owing to low sample size. The TRS is slightly elevated in inflamed versus endoscopically non-inflamed B1 cases (P < 0.02) and is also elevated in B1 cases with non-inflamed ilea as compared to non-IBD controls (P < 1 × 10−6), confirming that the TRS picks up a signal that is related but complementary to inflammation. Complicated cases have an elevated TRS even relative to inflamed B1 cases (P < 7 × 10−4). A box plot of values is shown for each group along with P values for pairwise comparisons (two-sided t test).

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