Table 2. Distribution of CD genotypes between CD disease locations.
The distribution of genotypes is shown with respect to the four major disease locations. L1, L2, L3 include subjects with L4 as a modifier. Because there were only 6 L4 patients with only L4 disease, these patients were excluded from the analysis.
| Gene or Chromosome | SNP | L1 n = 288 |
L2 n = 131 |
L3 n = 203 |
|---|---|---|---|---|
|
| ||||
| NOD2 | (composite) | |||
| R/R | rs2066847 | 12% | 2% | 7% |
| R/NR | rs2066844 | 30% | 14% | 23% |
| NR/NR | rs2066845 | 58% | 84% | 70% |
|
| ||||
| ATG16L1 | rs2241880 | |||
| R/R | 35% | 30% | 36% | |
| R/NR | 45% | 43% | 45% | |
| NR/NR | 20% | 27% | 19% | |
|
| ||||
| IL23R | rs11209026 | |||
| R/R | 96% | 95% | 92% | |
| R/NR | 4% | 5% | 8% | |
| NR/NR | 0% | 0% | 0% | |
|
| ||||
| IRGM | rs13361189 | |||
| R/R | 4% | 5% | 2% | |
| R/NR | 27% | 18% | 20% | |
| NR/NR | 69% | 77% | 78% | |
|
| ||||
| STAT3 | rs744166 | |||
| R/R | 33% | 37% | 32% | |
| R/NR | 50% | 45% | 53% | |
| NR/NR | 17% | 18% | 15% | |
|
| ||||
| ICOSLG | rs762421 | |||
| R/R | 17% | 14% | 12% | |
| R/NR | 48% | 48% | 54% | |
| NR/NR | 35% | 38% | 34% | |
|
| ||||
| 21q21 | rs1736135 | |||
| R/R | 38% | 45% | 49% | |
| R/NR | 50% | 37% | 39% | |
| NR/NR | 12% | 18% | 12% | |
|
| ||||
| 7p12 | rs1456893 | |||
| R/R | 52% | 50% | 50% | |
| R/NR | 41% | 42% | 42% | |
| NR/NR | 7% | 8% | 8% | |
|
| ||||
| IBD-5 locus | rs2188962 | |||
| R/R | 20% | 13% | 24% | |
| R/NR | 45% | 47% | 47% | |
| NR/NR | 35% | 40% | 29% | |
|
| ||||
| ITLN1 | rs2274910 | |||
| R/R | 42% | 46% | 47% | |
| R/NR | 47% | 44% | 43% | |
| NR/NR | 11% | 10% | 10% | |
|
| ||||
| CCR6 | rs2301436 | |||
| R/R | 22% | 22% | 25% | |
| R/NR | 52% | 54% | 50% | |
| NR/NR | 26% | 24% | 25% | |
|
| ||||
| PTPN2 | rs2542151 | |||
| R/R | 7% | 2% | 4% | |
| R/NR | 27% | 34% | 34% | |
| NR/NR | 66% | 64% | 62% | |
|
| ||||
| PTPN22 | rs2476601 | |||
| R/R | 87% | 85% | 86% | |
| R/NR | 13% | 13% | 13% | |
| NR/NR | 0% | 2% | 0% | |
|
| ||||
| TNFSF15 | rs4263839 | |||
| R/R | 55% | 55% | 46% | |
| R/NR | 38% | 43% | 42% | |
| NR/NR | 7% | 2% | 11% | |
|
| ||||
| ORMDL3 | rs2872507 | |||
| R/R | 20% | 27% | 17% | |
| R/NR | 46% | 47% | 51% | |
| NR/NR | 34% | 26% | 32% | |
|
| ||||
| MST1 | rs3197999 | |||
| R/R | 11% | 12% | 9% | |
| R/NR | 42% | 43% | 41% | |
| NR/NR | 47% | 45% | 50% | |
|
| ||||
| C11orf30 | rs7927894 | |||
| R/R | 19% | 17% | 20% | |
| R/NR | 45% | 51% | 45% | |
| NR/NR | 36% | 32% | 34% | |
|
| ||||
| C13orf31 | rs3764147 | |||
| R/R | 7% | 11% | 7% | |
| R/NR | 36% | 36% | 44% | |
| NR/NR | 57% | 53% | 49% | |
|
| ||||
| PTGER4 | rs4613763 | |||
| R/R | 6% | 2% | 5% | |
| R/NR | 30% | 27% | 30% | |
| NR/NR | 64% | 71% | 65% | |
|
| ||||
| CDKAL1 | rs6908425 | |||
| R/R | 63% | 61% | 60% | |
| R/NR | 33% | 34% | 37% | |
| NR/NR | 4% | 5% | 3% | |
|
| ||||
| 6q21 | rs7746082 | |||
| R/R | 8% | 6% | 11% | |
| R/NR | 36% | 43% | 39% | |
| NR/NR | 56% | 51% | 50% | |
|
| ||||
| 1q24 | rs9286879 | |||
| R/R | 9% | 5% | 10% | |
| R/NR | 39% | 50% | 37% | |
| NR/NR | 52% | 45% | 53% | |
|
| ||||
| IL12B | rs10045431 | |||
| R/R | 56% | 58% | 47% | |
| R/NR | 39% | 33% | 47% | |
| NR/NR | 5% | 9% | 6% | |
|
| ||||
| JAK2 | rs10758669 | |||
| R/R | 44% | 45% | 37% | |
| R/NR | 43% | 44% | 51% | |
| NR/NR | 13% | 11% | 12% | |
|
| ||||
| 10p11 | rs17582416 | |||
| R/R | 14% | 9% | 14% | |
| R/NR | 44% | 48% | 46% | |
| NR/NR | 42% | 43% | 40% | |
|
| ||||
| NKX2-3 | rs11190140 | |||
| R/R | 26% | 24% | 24% | |
| R/NR | 49% | 54% | 49% | |
| NR/NR | 25% | 21% | 27% | |
|
| ||||
| ZNF365 | rs10995271 | |||
| R/R | 21% | 14% | 17% | |
| R/NR | 44% | 53% | 50% | |
| NR/NR | 35% | 33% | 33% | |
|
| ||||
| LOC651731 | rs11584383 | |||
| R/R | 60% | 54% | 54% | |
| R/NR | 31% | 40% | 41% | |
| NR/NR | 9% | 6% | 5% | |
|
| ||||
| MUC19 | rs11175593 | |||
| R/R | 0% | 0% | 0% | |
| R/NR | 7% | 5% | 5% | |
| NR/NR | 93% | 95% | 95% | |