Background
Methods
Results
Patient and disease characteristics
Total N = 570 | CD N = 411 | UC N = 148 | IBDU N = 11 | |
---|---|---|---|---|
Follow-up | ||||
Length, mean, range | 9.2 yrs (range 0.1–49.1) | 9.5 yrs (range 0.1–49.1) | 8.6 yrs (range 0.2–32.3) | 4.9 yrs (range 0.8–10.5) |
Length, median | 6.9 yrs | 7.0 yrs | 6.9 yrs | 4.8 yrs |
Gender | ||||
Male | 258 (45.3) | 169 (41.1) | 85 (57.4) | 4 (36.4) |
Female | 312 (54.7) | 242 (58.9) | 63 (42.6) | 7 (63.6) |
Age at diagnosis | ||||
Mean, range | 27 yr (range 5–79) | 27 yr (range 5–79) | 28 yr (range 8–69) | 32 yr (range 17–47) |
Median | 25 yr | 25 yr | 26 yr | 32 yr |
Disease location CD | ||||
L1—terminal ileum | 99 (24.1) | |||
L2—colon | 90 (21.9) | |||
L3—ileocolon | 120 (29.2) | |||
(+) L4—upper GI tract | 63 (15.3) | |||
Other | 0 (0) | |||
Unknown | 21 (5.1) | |||
No inflammation | 18 (4.4) | |||
Disease location UC | ||||
E1—proctitis | 8 (5.0) | 7 (4.7) | 1 (9.1) | |
E2—left sided colitis | 69 (43.4) | 64 (43.2) | 5 (45.4) | |
E3—pancolitis | 73 (45.9) | 69 (46.6) | 4 (36.4) | |
No inflammation | 3 (1.9) | 3 (2.0) | 0 (0) | |
Other | 2 (1.3) | 1 (0.7) | 1 (9.1) | |
Unknown | 4 (2.5) | 4 (2.7) | 0 | |
Backwash ileitis | 35 | 22 | 3 | |
Rectal sparing | 19 | 16 | 1 | |
Disease behaviour CD | ||||
B1—luminal disease | 126 (30.7) | |||
B2—stenosis | 89 (21.7) | |||
B3—abscesses and/or fistula | 181 (44.0) | |||
P—perianal disease | 144 (35.0) | |||
Unknown | 15 (3.6) | |||
Extra-intestinal | 172 (30.2) | 134 (32.6) | 36 (24.3) | 2 (18.2) |
Family history of IBD | ||||
Yes | 127 (22.3) | 98 (23.8) | 25 (16.9) | 4 (36.4) |
No | 380 (66.7) | 267 (65.0) | 108 (73.0) | 5 (45.4) |
Not documented | 63 (11.0) | 46 (11.2) | 15 (10.1) | 2 (18.2) |
Family history of CRC | ||||
Yes | 36 (6.3) | 22 (5.4) | 13 (8.8) | 1 (9.1) |
No | 469 (82.3) | 342 (83.2) | 119 (80.4) | 8 (72.7) |
Not documented | 65 (11.4) | 47 (11.4) | 16 (10.8) | 2 (18.2) |
Genetics
Gene | SNP | Total | Homozygous: no SNP | Heterozygous, one SNP | Homozygous, two SNPs |
---|---|---|---|---|---|
IRGM
| C | 568 | 430 | 120 | 18 |
ATG16L1
| T | 559 | 103 | 272 | 184 |
NOD2
| T, C, C | 570 | 428 | 128 | 14 |
rs2066844 | T | 559 | 484 | 71 | 4 |
rs2066845 | C | 567 | 539 | 27 | 1 |
rs2066847 | C | 561 | 513 | 48 | 0 |
XBP1
| C, protective | 567 | 510 | 54 | 3 |
LRRK2/MUC19
| T | 562 | 532 | 30 | 0 |
CCR6
| A | 558 | 135 | 280 | 143 |
IL23R
| G, protective | 564 | 524 | 38 | 2 |
STAT3
| T | 562 | 218 | 266 | 78 |
NCF4
| C | 570 | 282 | 225 | 63 |
Treatment | SNP | MAF controls [31] | MAF IBD [31] | MAF cohort |
---|---|---|---|---|
IRGM
| C | 0.13 | 0.18 | 0.14 |
ATG16L1
| T | 0.48 | 0.40 [44] | 0.57 |
NOD2
| T, C, C | – | – | |
rs2066844 | T | 0.07 | 0.14 | 0.07 |
rs2066845 | C | 0.01 | 0.05 | 0.03 |
rs2066847 | C | 0.02 | 0.11 | 0.04 |
XBP1
| C, protective | 0.04 | 0.04 | 0.05 |
LRRK2/MUC19
| T | 0.02 | 0.03 | 0.03 |
CCR6
| A | 0.47 | 0.48 | 0.50 |
IL23R
| G, protective | 0.08 | 0.02 | 0.04 |
STAT3
| T | 0.42 | 0.41 | 0.38 |
NCF4
| C | 0.33 | 0.31 |
Genetics versus treatments
Treatment |
IRGM
|
ATG16L1
|
NOD2
|
XBP1
| LRRK2/MUC19 | CCR6 | IL23 |
STAT3
| NCF4 |
---|---|---|---|---|---|---|---|---|---|
Requirement | |||||||||
Infliximab | ns | ns | OR 0.62, CI 0.41–0.95 | ns | ns | ns | ns | ns | ns |
Adalimumab | OR 0.57, CI 0.36–0.91 | OR 2.4, CI 1.3–4.4 | ns | ns | ns | ns | ns | ns | ns |
Side-effects | |||||||||
Infliximab | ns | ns | ns | ns | ns | ns | ns | OR 0.19, CI 0.05–0.78 | ns |
Adalimumab | ns | ns | ns | ns | ns | ns | ns | ns | ns |
Loss of response | |||||||||
Infliximab | ns | ns | ns | ns | ns | ns | ns | ns | ns |
Adalimumab | ns | ns | ns | ns | ns | ns | ns | ns | ns |
Primary non response | |||||||||
Infliximab | OR 2.8, CI 1.1–7.0 | ns | ns | OR 3.8, CI 1.2–12.0 | ns | ns | ns | ns | ns |
Adalimumab | ns | ns | ns | ns | ns | ns | ns | ns | ns |