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©2005 Baishideng Publishing Group Inc.
World J Gastroenterol. Mar 14, 2005; 11(10): 1489-1495
Published online Mar 14, 2005. doi: 10.3748/wjg.v11.i10.1489
Published online Mar 14, 2005. doi: 10.3748/wjg.v11.i10.1489
Table 1 Clinical characteristics of the different cohorts of Crohn’s disease (CD) patients.
Budapest (n = 185) | Veszprem (n = 175) | Szeged (n = 167) | |
Male/Female | 98/87 | 88/87 | 79/88 |
Age (yr) | 35.6±11.4 | 37.8±13.3 | 37.1±12.7 |
Age at presentation (yr) | 27.2±10.3 | 30.2±12.4 | 28.9±10.9 |
Duration (yr) | 8.9±6.6 | 7.7±6.8 | 8.0±7.3 |
Familial IBD, n (%) | 63 (11.9) | 38 (11.1) | 25 (13.5) |
Location (n) L1 | 43 | 54 | 39 |
L2 | 37 | 47 | 52 |
L3 | 103 | 74 | 74 |
L4 | 2 | 0 | 2 |
Behavior (n) B1 | 88 | 65 | 62 |
B2 | 40 | 39 | 49 |
B3 | 56 | 71 | 56 |
Perianal disease, n (%) | 41 (22.1) | 49 (28.0) | 50 (29.9) |
Frequent relapse, n (%) | 59 (31.9) | 72 (41.1) | 64 (38.6) |
Extraintestinal manifestations, n (%) | 67 (36.2) | 61 (34.8) | 47 (28.2) |
Operation, n (%) | 77 (41.6) | 76 (43.4) | 67 (40.1) |
Smoking habits (n) No | 115 | 96 | 98 |
Yes | 55 | 61 | 55 |
Previous | 15 | 20 | 14 |
Table 2 NOD2/CARD15 genotype in patients with Crohn’s disease (CD) and controls, n (%).
Table 3 TLR4 D299G genotype in patients with Crohn’s disease (CD) and controls, n (%).
B | TLR4 D299G | ||||
Non-carrier | All carrier | Heterozygous | Homozygous | ||
Controls (n = 200) | 176 (88.0) | 24 (12.0) | 23(11.5) | 1 (0.5) | |
CD (n = 527) | 475 (90.1) | 52 (9.9) | 50 (9.5) | 2(0.4) |
Table 4 NOD2/CARD15 SNP8, 12 and 13 in patients with Crohn’s disease (CD) and controls.
R702W (SNP8)1 | G908R(SNP12) | 3020insC (SNP13)1 | ||||
CD n (%) | Controls n (%) | CD n (%) | Controls n (%) | CD n (%) | Controls n (%) | |
Wild type | 466 (88.4) | 188 (94.0) | 494 (96.7) | 193 (96.5) | 425 (80.6) | 190 (95.0) |
All carriers | 61 (11.6) | 12 (6.0) | 33 (6.3) | 7 (3.5) | 102 (19.4) | 10 (5.0) |
Heterozygous | 45 (8.5) | 12 (6.0) | 33 (6.3) | 7 (3.5) | 89 (16.9) | 10 (5.0) |
Homozygous | 16 (3.1) | 0 | 0 | 0 | 13 (2.5) | 0 |
Table 5 NOD2/CARD15 and TLR4 D299G mutations in different cohorts of CD patients, n (%).
Table 6 Further exon4 mutations in patients with Crohn’s disease (CD) and controls.
CD (n = 527) | Controls (n = 200) | |
R703C1 | 11 (1 homozygous) | 0 |
R713C | 1 | 0 |
A755V | 2 | 1 |
E778K | 0 | 1 |
R791Q | 5 | 1 |
V793M | 2 | 1 |
Table 7 Clinical characteristics of CD patients, with respect to the presence or absence of NOD2/CARD15 mutations.
Total (n = 527) | Non carrier (n = 342) | Carrier (n = 185) | 1 allele (n = 133) | 2 alleles (n = 52) | ||
Male/Female | 265/262 | 174/168 | 91/94 | 71/62 | 20/32 | |
Age (yr) | 36.9±9.1 | 37.9±13.0 | 34.9±11.61 | 35.2±11.7 | 34.3±11.4 | |
Age at presentation (yr) | 37.1±7.6 | 29.8±12.1 | 26.4±9.71 | 26.4±9.6 | 26.5±10.2 | |
Duration (yr) | 8.2±5.0 | 8.1±7.0 | 8.5±6.7 | 8.8±7.0 | 7.9±5.8 | |
Familiar IBD n (%) | 63 (11.9) | 38 (11.1) | 25 (13.5) | 17 (12.8) | 8 (15.4) | |
Location (n) | L1 | 136 | 84 | 521 | 362 | 162 |
L2 | 136 | 103 | 33 | 26 | 7 | |
L3 | 251 | 152 | 99 | 71 | 28 | |
L4 | 4 | 3 | 1 | 0 | 1 | |
Behavior (n) | B1 | 216 | 151 | 651 | 483 | 17 |
B2 | 128 | 71 | 57 | 42 | 15 | |
B3 | 183 | 120 | 63 | 43 | 20 | |
Perianal disease n (%) | 140 (26.6) | 89 (26.0) | 51 (27.6) | 36 (27.1) | 15 (28.9) | |
Frequent relapse n (%) | 195 (37.1) | 126 (36.9) | 69 (37.3) | 47 (35.3) | 22 (42.3) | |
Extraintestinal manifestations n (%) | 175 (33.2) | 117 (34.2) | 58 (31.3) | 45 (33.8) | 13 (25) | |
Arthritis n (%) | 147 (27.9) | 98 (28.7) | 49 (26.5) | 36 (27.1) | 13 (25) | |
Occular n (%) | 27 (5.1) | 18 (5.2) | 9 (4.9) | 9 (6.8) | 0 | |
Erythema nodosum/Pyoderma n (%) | 48 (9.1) | 30 (8.8) | 18 (9.7) | 15 (11.3) | 3 (5.8) | |
PSCa | 18 (3.4) | 15 (4.4) | 3 (1.6) | 3 (2.3) | 0 | |
Steroid use/ | 440 (83.5)/ | 282 (82.4)/ | 158 (85.4)/ | 114 (85.7)/ | 44 (84.6)/ | |
refractory n (%) | 44 (10) | 28 (9.3) | 16 (10.1) | 10 (8.8) | 6 (13.6) | |
Azathioprine use/ | 337 (64.1)/ | 208 (60.8)/ | 129 (69.7)1/ | 89 (66.9)/ | 40 (76.9)4/ | |
refractory n (%) | 19 (5.6) | 10 (4.8) | 9 (7.0) | 7 (7.8) | 2 (5) | |
Operation n (%) | 220 (41.8) | 128 (37.4) | 92 (49.7)1 | 66 (49.6)2 | 26 (50.0)2 | |
Smoking (n) | Never | 308 | 191 | 117 | 80 | 37 |
Active | 170 | 115 | 55 | 42 | 13 | |
Previous | 49 | 36 | 13 | 11 | 2 |
Table 8 Genotype–phenotype associations with particular NOD2/CARD15 alleles in CD patients.
None (n = 342) | SNP8 (n = 61) | SNP12 (n = 33) | SNP13 (n = 102) | ||
Male/Female | 174/168 | 28/33 | 14/19 | 51/51 | |
Age (yr) | 37.9±13.0 | 35.9±13.0 | 37.1±11.4 | 33.7±10.41 | |
Age at presentation (yr) | 29.8±12.1 | 26.6±10.9 | 28.8±10.0 | 26.0±8.41 | |
Duration (yr) | 8.1±7.0 | 9.3±7.6 | 11.4±6.42 | 7.7±6.1 | |
Familiar IBD n (%) | 38 (11.1) | 9 (14.8) | 7 (21.1) | 11 (10.8) | |
Location | L1 | 84 | 16 | 7 | 322 |
L2 | 103 | 12 | 5 | 16 | |
L3 | 152 | 33 | 20 | 53 | |
L4 | 3 | 0 | 1 | 1 | |
Behavior | B1 | 151 | 22 | 8 | 34 |
B2 | 71 | 15 | 13 | 31 | |
B3 | 120 | 14 | 12 | 37 | |
Perianal disease n (%) | 89 (26.0) | 18 (29.5) | 7 (21.1) | 32 (31.4) | |
Frequent relapse n (%) | 126 (36.9) | 24 (39.3) | 13 (39.4) | 38 (37.3) | |
Extraintestinal manifestations n (%) | 117 (34.2) | 17 (27.8) | 14 (42.4) | 31 (30.4) | |
Arthritis n (%) | 98 (28.7) | 16 (26.2) | 14 (42.2) | 24 (23.5) | |
Occular n (%) | 18 (5.2) | 1 (1.6) | 2 (6.1) | 4 (3.9) | |
Erythema nodosum/ | |||||
Pyoderma n (%) | 30 (8.8) | 5 (8.2) | 4 (12.1) | 7 (6.9) | |
PSC n (%) | 15 (4.4) | 1 (1.6) | 0 | 2 (1.9) | |
Steroid use/ | 282 (82.4)/ | 51 (83.6)/ | 31 (93.9)/ | 88 (86.3)/ | |
refractory n (%) | 28 (9.3) | 7 (13.7) | 2 (16.1) | 6 (6.8) | |
Azathioprine use/ refractory n (%) | 208 (60.8)/ | 38 (62.3)/ | 32 (97)1/ | 69 (67.6)/ | |
10 (4.8) | 4 (10.5) | 2 (11.1) | 3 (4.3) | ||
Operationn (%) | 128 (37.4) | 27 (44.3) | 23 (69.7)1 | 53 (52.0)2 | |
Smoking habits | Never | 191 | 44 | 21 | 65 |
Active | 115 | 12 | 9 | 33 | |
Previous | 36 | 5 | 3 | 4 |
- Citation: Lakatos PL, Lakatos L, Szalay F, Willheim-Polli C, Österreicher C, Tulassay Z, Molnar T, Reinisch W, Papp J, Mozsik G, Group HIS, Ferenci P. Toll-like receptor 4 and NOD2/CARD15 mutations in Hungarian patients with Crohn’s disease: Phenotype-genotype correlations. World J Gastroenterol 2005; 11(10): 1489-1495
- URL: https://www.wjgnet.com/1007-9327/full/v11/i10/1489.htm
- DOI: https://dx.doi.org/10.3748/wjg.v11.i10.1489