Figure 2. Risk for rs2302685 C-allele carriers in the different disease subgroups and the influence of detailed phenotyping.

A) Odds ratios and confidence intervals for the different comparisons are shown. The frequency distribution of the minor rs2302685 allele was analysed in different cohorts and combined samples: odds ratios and 95% confidence interval for the allele frequency are shown for patients with specific disease subtypes of ileal CD (classified as either L1 (solely ileal) or L3 (ileal and colonic involvement)) compared to healthy control individuals. The early onset as well as the penetrating behaviour subgroup displays an significantly increased Minor allele frequencies (MAF). B) An especially high risk for early onset ileal CD is found for homozygous minor C - allele carriers. This becomes apparent in the high odds ratios for such individuals in the different cohorts and combined samples (left panel) and an highly increased CC genotype frequency compared to the control samples and other disease groups (right panel). C) The MAF distribution was analysed in different cohorts and combined samples: odds ratios and 95% confidence interval for the MAF are shown for patients with ulcerative colitis (UC) (left panel) and CD patients with solely colonic involvement (right panel) compared to healthy control individuals. The lack of an increase in the odds ratios for the different comparisons allows excluding major effects of the variant in the colonic IBD subgroups.