Table 1.
Allele and genotype count (and frequencies) of 5′UTR DEFB1 single-nucleotide polymorphisms in Crohn's disease patients, ulcerative colitis patients and healthy controls. The Crohn's disease patients are also stratified according to the anatomical localization of the disease. The p-values <0.05 (uncorrected), odds ratios (ORs) and 95% CIs are also reported.
| DEFB1SNPs | CD Patients | UCpatients | HealthyControls | |||
| Ileal CDn.25 | Ileo-colonicCD n.30 | Colonic CDn.18 | total CDn.108 | total UCn.37 | total HCn.30 | |
| -52G>A | ||||||
| Alleles | ||||||
| G | 39/50 (0.78) # | 34/60 (0.57) | 21/36 (0.58) | 137/216 (0.63) | 44/74 (0.60) | 151/260 (0.58) |
| A | 11/50 (0.22) | 26/60 (0.43) | 15/36 (0.42) | 79/216 (0.37) | 30/74 (0.40) | 109/260 (0.42) |
| Genotypes | ||||||
| GG | 16/25 (0.64) ## | 9/30 (0.30) | 6/18 (0.33) | 44/108 (0.41) | 14/37 (0.38) | 39/130 (0.30) |
| GA | 7/25 (0.28) | 16/30 (0.53) | 9/18 (0.50) | 49/108 (0.45) | 16/37 (0.43) | 73/130 (0.56) |
| AA | 2/25 (0.08) | 5/30 (0.17) | 3/18 (0.17) | 15/108 (0.14) | 7/37 (0.19) | 18/130 (0.14) |
| -44C>G | ||||||
| Alleles | ||||||
| C | 39/50 (0.78) | 49/60 (0.82) | 34/36 (0.94) $ | 179/216 (0.83) | 59/74 (0.80) | 203/260 (0.78) |
| G | 11/50 (0.22) | 11/60 (0.18) | 2/36 (0.06) | 37/216 (0.17) | 15/74 (0.20) | 57/260 (0.22) |
| Genotypes | ||||||
| CC | 14/25 (0.56) | 19/30 (0.63) | 16/18 (0.89) $$ | 71/108 (0.66) | 22/37 (0.60) | 76/130 (0.59) |
| CG | 11/25 (0.44) | 11/30 (0.37) | 2/18 (0.11) | 37/108 (0.34) | 15/37 (0.40) | 51/130 (0.39) |
| GG | 0/25 | 0/30 | 0/18 | 0/108 | 0/37 | 3/130 (0.02) |
| -20G>A | ||||||
| Alleles | ||||||
| G | 22/50 (0.44) | 36/60 (0.60) | 16/36 (0.44)*) | 114/216 (0.53)**) | 43/74 (0.58) | 162/260 (0.62) |
| A | 28/50 (0.66) | 24/60 (0.40) | 20/36 (0.56) | 102/216 (0.47) | 31/74 (0.42) | 98/260 (0.38) |
| Genotypes | ||||||
| GG | 4/25 (0.16) | 9/30 (0.30) | 2/18 (0.11)***) | 25/108 (0.23) | 12/37 (0.33) | 47/130 (0.36) |
| GA | 14/25 (0.56) | 18/30 (0.60) | 12/18 (0.67) | 64/108 (0.59) | 19/37 (0.51) | 68/130 (0.52) |
| AA | 7/25 (0.28) | 3/30 (0.10) | 4/18 (0.22) | 19/108 (0.18) | 6/37 (0.16) | 15/130 (0.12) |
# Ileal CD vs. HC, p = 0.01, O.R. = 2.552 (1.215-5.781);
## Ileal CD vs. HC, p = 0.002, O.R. = 4.106 (1.554-11.521);
$ Colonic CD vs. HC, p = 0.037, O.R. = 4.773 (1.113-20.473);
$$ Colonic CD vs. HC, p = 0.017, O.R. = 5.633 (1.242-52.507);
Colonic CD vs. HC, p = 0.046, O.R. = 0.485 (0.224-1.038);
CD vs. HC, p = 0.04, O.R. = 0.676 (0.461-0.992);
Colonic CD vs. HC, p = 0.03, O.R. = 0.222 (0.024-1.013).