Genotype and haplotype distributions for the DLG5 and SLC22A4/SLC22A5 polymorphisms, respectively, and for the IGR2078a_1 marker
| SNP marker | Genotype | Crohn’s disease | p Value | Ulcerative colitis | p Value | Controls |
|---|---|---|---|---|---|---|
| *615 patients with Crohn’s disease (CD), 355 patients with ulcerative colitis (UC), and 972 controls were tested for polymorphisms in the DLG5 gene. | ||||||
| †602 patients with CD, 357 patients with UC, and 1005 controls were tested for the IGR2078a_1 marker. | ||||||
| ‡p values are given for the SLC22A4 1672TT, SLC22A5 −207CC, and IGR2078a_1AA genotypes; significance levels for the allele frequencies were p = 0.0041 for the 1672C→T polymorphism in SLC22A4, p = 0.0128 for the −207G→C polymorphism in SLC22A5, and p = 0.0128 for the IGR2078a_1 A/G marker; no significant differences for the heterozygous and carrier status (combined frequencies for homozygous and heterozygous genotypes with respect to the risk associated allele) were noted; these values were also significant after performing Bonferroni’s correction. | ||||||
| DLG5* | ||||||
| 113G→A | GG | 501 (81.5%) | NS | 284 (80.0%) | NS | 781 (80.3%) |
| AG | 107 (17.4%) | 67 (18.9%) | 172 (17.7%) | |||
| AA | 7 (1.1%) | 4 (1.1%) | 19 (2.0%) | |||
| 4136C→A | CC | 569 (92.5%) | NS | 318 (89.6%) | NS | 888 (91.4%) |
| AC | 44 (7.2%) | 34 (9.6%) | 82 (8.4%) | |||
| AA | 2 (0.3%) | 3 (0.8%) | 2 (0.2%) | |||
| DLG5_e26 | insAinsA | 260 (42.3%) | NS | 151 (42.5%) | NS | 415 (42.7%) |
| insAdelA | 285 (46.3%) | 165 (46.5%) | 430 (44.2%) | |||
| delAdelA | 70 (11.4%) | 39 (11.0%) | 127 (13.1%) | |||
| SLC22A4 | ||||||
| 1672C→T | CC | 189 (30.2%) | 121 (33.3%) | NS | 328 (32.4%) | |
| CT | 283 (45.3%) | 180 (49.6%) | 518 (51.2%) | |||
| TT | 153 (24.5%) | 0.0005‡ | 62 (17.1%) | 166 (16.4%) | ||
| SLC22A5 | ||||||
| −207G→C | GG | 163 (26.1%) | 105 (28.9%) | NS | 271 (26.8%) | |
| GC | 282 (45.1%) | 170 (46.8%) | 533 (52.7%) | |||
| CC | 180 (28.8%) | 0.0009‡ | 88 (24.3%) | 208 (20.5%) | ||
| OCTN haplotype | ||||||
| SLC22A4/ | C/G | 606 (48.5%) | 378 (52.1%) | NS | 1075 (53.1%) | |
| SLC22A5 | T/C | 587 (47.0%) | 0.0082 | 302 (41.6%) | 850 (42.0%) | |
| C/C | 55 (4.4%) | 44 (6.1%) | 99 (4.9%) | |||
| T/G | 2 (0.1%) | 2 (0.2%) | 0 (0.0%) | |||
| IGR2078a_1† | ||||||
| GG | 189 (31.4%) | 124 (34.7%) | 340 (33.8%) | |||
| GA | 279 (46.3%) | 179 (50.2%) | 507 (50.5%) | |||
| AA | 134 (22.3%) | 0.0013‡ | 54 (15.1%) | NS | 158 (15.7%) | |