Single nucleotide polymorphisms of OCTN1, OCTN2, and DLG5 genes in Greek patients with Crohn’s disease

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