Gazouli M, Mantzaris G, Archimandritis AJ, Nasioulas G, Anagnou NP. Single nucleotide polymorphisms of OCTN1, OCTN2, and DLG5 genes in Greek patients with Crohn’s disease. World J Gastroenterol 2005; 11(47): 7525-7530 [PMID: 16437728 DOI: 10.3748/wjg.v11.i47.7525]
Corresponding Author of This Article
Dr N.P. Anagnou, Department of Biology, School of Medicine, University of Athens, M. Asias 75, Athens 11527, Greece. anagnou@med.uoa.gr
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Rapid Communication
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World J Gastroenterol. Dec 21, 2005; 11(47): 7525-7530 Published online Dec 21, 2005. doi: 10.3748/wjg.v11.i47.7525
Table 1 Demographic characteristics and clinical features of 120 patients with Crohn’s disease and of 85 patients with ulcerative colitis
Crohn’s disease
Ulcerative colitis
Total number
120
85
Sex (male/female)
58/62
42/43
Age of diagnosis (mean±SD yr)
29.82±14.00
33.36±14.24
Family history in first-degree relative (%)
4 (3.3 %)
5 (5.9%)
Smoking habit (%)
Never
50 (41.7%)
48 (56.5%)
Ex-smoker
11 (9.2%)
14 (16.5%)
Current
59 (49.2%)
23 (27.1%)
Localization of disease
Ileal
39 (32.5%)
Colonic
11 (9.2%)
Ileocolitis
67 (55.8%)
Upper gastroenteric
3 (2.5%)
Disease features
Inflammatory
78 (65%)
Fibrostenotic
32 (26.7%)
Fistulizing
10 (8.3%)
Extra-intestinal manifestations
Arthritis
16 (13.3%)
Erythema nodosum
5 (4.2%)
Table 2 Allele and genotype frequencies of C1672T SNP in OCTN1 gene in CD and UC patients and in healthy controls
Alleles
Genotypes
C
T
T allele frequencies (%)
P
CC
CT
TT
TT genotype frequencies (%)
P
[odds ratio (95%CI)]
[odds ratio (95%CI )]
CD
180
60
25
0.01 [1.89 (1.16–3.07)]
70
40
10
8.33
0.095 [2.94 (0.78–10.99)]
UC
151
19
11.17
0.28 [0.71 (0.38–1.32)]
67
17
1
1.17
0.39 [0.38 (0.04–3.77)]
Controls
170
30
15
73
24
3
3
Table 3 Allele and genotype frequencies of G-207C SNP in OCTN2 gene in CD and UC patients and in healthy controls
Alleles
Genotypes
G
C
C allele frequencies (%)
P
GG
GC
CC
CC genotype frequencies (%)
P
[odds ratio (95%CI)]
[odds ratio (95%CI)]
CD
188
52
21.67
0.038 [1.69 (1.02–2.81)]
75
38
7
5.83
0.53 [1.49 (0.42–5.23)]
UC
152
18
10.58
0.32 [0.73 (0.39–1.37)]
69
14
2
2.35
0.53 [0.58 (0.10–3.24)]
Controls
172
28
14
76
20
4
4
Table 4 Linkage disequilibrium (D’ and r2 between 1672T and -207C are indicated), and TC haplotype frequencies in patients with CD, UC and in healthy individuals
Number of patients
D’
r2
TC haplotype frequencies (%)
P
[odds ratio (95%CI)]
CD
120
0.51
0.22
13.3
0.018 [2.21 (1.12–4.43)]
UC
85
0.5
0.23
5.9
0.81 [0.89 (0.37–2.15)]
Controls
100
0.34
0.1
6.5
Table 5 Odds ratios for susceptibility to CD and UC of a NOD2/CARD15 mutation, and for the joint TC- NOD2/CARD15 effect
Odds ratios
TC
NOD2/CARD15
Joint TC- NOD2/CARD15
CD
2.21 (1.12–4.43) P = 0.018
16.8 (8.6–32.7) P < 0.0001
9.22 (2.1–40.6) P = 0.0005
UC
0.89 (0.37–2.15) P = 0.79
3.34 (1.76–6.36) P = 0.0002
3.06 (0.58–16.21) P = 0.17
Citation: Gazouli M, Mantzaris G, Archimandritis AJ, Nasioulas G, Anagnou NP. Single nucleotide polymorphisms of OCTN1, OCTN2, and DLG5 genes in Greek patients with Crohn’s disease. World J Gastroenterol 2005; 11(47): 7525-7530