Clinical Research
Copyright ©2008 The WJG Press and Baishideng.
World J Gastroenterol. Jul 28, 2008; 14(28): 4454-4461
Published online Jul 28, 2008. doi: 10.3748/wjg.14.4454
Table 1 Primers sequences and restriction enzymes used for genotyping TLR4 and NOD2/CARD15
Gene locusSNPsSequenceRestriction enzyme
NOD2/CARD15R702WFor5’ TTCAGATCACAGCAGCCTTC 3’MspI
Rev5’ CCCACACTGCAAAATGTCAAC 3’
G908RFor5’ AGCCACTGAAAACTCTTGG 3’HhaI
Rev5’ TCTTCACCTGATCTCCCCAA 3’
L1007finsCFor5’ CCTGCAGTCTCTTTAACTGG 3’NlaIV
Rev5’ CTTACCAGACTTCCAGGATG 3’
TLR4D299GFor5’ TTAGAAATGAAGGAAACTTGGAAAAG 3’BsaBI
Rev5’ TTTGTCAAACAATTAAATAAGTGATTAATA 3’
T399IFor5’ GGTTGCTGTTCTCAAAGTGATTTTGGGAGAA 3’HinfI
Rev5’ CCTGAAGACTGGAGAGTGAGTTAAATGCT 3’
Table 2 NOD2/CARD15 and TLR4 SNPs allele frequencies of CD patients vs control group and UC patients
Polymorphisms of NOD2/CARD15 and TLR4 genesCD (n = 133)Allele frequency (%)Controls (n = 103)Allele frequency (%)1POR (95% CI)UC (n = 45)Allele frequency (%)2POR (95% CI)
R702W
Wild-type107 (80.4%)9.898 (95.1%)2.40.0014.09 (1.5-11.9)43 (95.5%)2.30.034.49 (1.02-19.8)
Heterozygous26 (19.6%)5 (4.9%)2 (4.5%)
G908R
Wild-type120 (90.2%)4.594 (91.2%)4.3NS1.01 (0.3-3.5)41 (91.1%)4.4NS0.90 (0.28-2.92)
Heterozygous13 (9.8%)9 (8.8%)4 (8.9%)
L1007finsC
Wild-type107 (80.4%)9.897 (94.1%)2.90.0023.92 (1.55-9.95)43 (95.5%)2.30.015.22 (1.19-22.98)
Heterozygous26 (19.6%)6 (5.9%)2 (4.5%)
D299G
Wild-type123 (92.5%)3.795 (92.2%)3.9%NS0.96 (0.37-2.54)42 (93.3%)3.4NS0.87 (0.23-3.35)
Heterozygous10 (7.5%)8 (7.8%)3 (6.7 %)
T399I
Wild-type125 (94%)3.097 (94.1%)2.9%NS1.15 (0.28-4.64)42 (93.3%)3.4NS1.11 (0.28-4.40)
Heterozygous8 (6.0%)6 (5.9%)3 (6.7%)
Table 3 Genotype-phenotype correlations in CD patients
Total CD patients (n = 133)CARD15 no risk alleles (n = 68, 51.1%)R702W 1 risk allele (n = 26, 19.6%)G908R 1 risk allele (n = 13, 9.7%)L1007finsC 1 risk allele (n = 26, 19.6%)CARD15 at least 1 risk allele (n = 65, 48.8%)CARD15 compound heterozygous (n = 48, 36.1%)
Age (mean ± SD)41.5 ± 11.241.2 ± 11.943.02 ± 10.942.0 ± 12.842.3 ± 12.142.7 ± 11.9
Sex (m/f, 70/63)32/3613/138/510/1630/3525/23
Localization (%)
Ileum (n = 61)25 (36.8)11 (42.3)4 (30.8)21 (80.7)38 (58.5)30 (62.5)
Ileo-colon (n = 39)22 (32.3)10 (38.5)4 (30.8)3 (11.5)15 (23.0)10 (20.8)
Colon (n = 30)18 (26.5)5 (19.5)5 (38.4)2 (7.8)12 (18.5)8 (16.7)
Upper GI (n = 3)3 (4.4%)00
P> 0.051> 0.0510.00110.0420.033
Disease type (%)
Inflammatory (n = 37)14 (20.6)7 (27.0)6 (46.0)10 (38.5)23 (35.4)8 (16.6)
Stenosing (n = 56)32 (47.0)11 (42.3)7 (54.0)6 (23.0)24 (37.0)34 (70.8)
Fistulizing (n = 40)22 (32.4)8 (30.7)010 (38.5)18 (27.6)6 (12.6)
P> 0.0510.031> 0.051> 0.0520.023
Resective Surgery (%)18 (26.4)9 (34.6)9 (69.2)14 (53.9)32 (49.2)31 (64.6)
P> 0.0510.00310.0110.0120.0003
Extraintestinal manifestations (n = 18, %)10 (55.5)3 (11.5)1 (7.7)4 (15.3)8 (13.3)3 (6.2)

  • Citation: Rigoli L, Romano C, Caruso RA, Presti MAL, Bella CD, Procopio V, Giudice GL, Amorini M, Costantino G, Sergi MD, Cuppari C, Calabrò GE, Gallizzi R, Salpietro CD, Fries W. Clinical significance of NOD2/CARD15 and Toll-like receptor 4 gene single nucleotide polymorphisms in inflammatory bowel disease. World J Gastroenterol 2008; 14(28): 4454-4461
  • URL: https://www.wjgnet.com/1007-9327/full/v14/i28/4454.htm
  • DOI: https://dx.doi.org/10.3748/wjg.14.4454