Table 1.
Overview of the origin of samples from IBD patients and healthy controls.
Table 2.
TCF-4 (TCF7L2) rs3814570 frequency distribution and statistical analysis of combined cohort samples.
Table 3.
Patients and controls sub grouped according to age and gender. Shown are percentages of individuals per group as well as the TCF-4 (TCF7L2) rs3814570 T- allele frequency (minor allele frequency MAF). Differences in genotype distribution compared to controls in general as well as the amount of all carriers (allele positivity) and the amount of homozygous carriers were subject to t- tests in patients with ileal CD. Finally, results of the Armitage's trend tests for verification of significant associations of the rare T- variant are shown.
Figure 1.
Sequencing of TCF-4 (TCF7L2) 5′upstream putative promoter region.
Sequencing of a 2.1 kb upstream region was performed in 10 healthy controls and 10 patients with ileal Crohn's disease. Putative regulatory regions were determined using promoter prediction software. Likely and marginal prediction sites are depicted as red boxes (upper panel). Relative location of identified variants is marked via grey dashes (upper part) and their allele frequency is demonstrated via bars for controls as well as patients (lower part).
Figure 2.
Distribution of haploblocks of TCF-4 (TCF7L2).
Both colour schemes (a and b) illustrate the linkage disequilibria. The variants are listed in the upper part of a and b, respectively. Haplotypes for TCF-4 (TCF7L2) rs3814570 (SNP1), rs10885394 (SNP2), rs10885395 (SNP3) and SNPs associated with diabetes in the Vienna cohort are shown in a. A missing number for D′ or r2 equals 1. Figure 2b: HapMap data based haplotype blocks and linkage disequilibria (LD) for TCF-4 (TCF7L2) polymorphisms. The intensity of red colouring in b is proportional to the extent of D′ or r2 respectively and a missing number for each of them equals. The observed SNP in the putative promoter region is not part of any significant haplotype block.
Figure 3.
Differences in frequency distribution of rs3814570 in the different disease subgroups compared to healthy controls.
Odds ratios and confidence intervals for the different comparisons are shown. The frequency distribution of rs3814570 was analyzed in different cohorts and combined samples: odds ratios and 95% confidence interval for allele frequency (upper panel) and allele positivity (amount of all T- allele carriers, lower panel) are shown for patients with ulcerative colitis (UC) (left panel), Crohn's disease (CD) patients with solely colonic involvement (L2, middle panel) and finally patients classified as either L1 (solely ileal) or L3 (ileal and colonic involvement) (right panel) compared to healthy control individuals.
Table 4.
Patients sub grouped according to disease behaviour, L4 phenotype and surgery.