Role of CARD15, DLG5 and OCTN genes polymorphisms in children with inflammatory bowel diseases

Table 5 Genotype-phenotype correlation in CD patients evaluated by comparisons of carriers and non-carriers of at least one CARD15 variant (CARD15+), AA/AG genotypes of DLG5 variant (DLG5+) and presence of TC haplotype of OCTN1/2 variants (TC+)

CD n = 200	CARD15+(n = 75)		CARD15-(n = 121)		DLG5+(n = 17)		DLG5-(n = 148)		OCTNTC haplotype (%)
									+	-
Localization CD, n (%)
Ileum	17 (23)		21 (17)		1 (6)		33 (22)		46	54
Ileo-colon	48 (64)		64 (53)		13 (76)		80 (54)		47	53
Colon	10 (13)		35 (29)		3 (18)		34 (23)		39	61
Upper G-I tract	16 (21)		18 (15)		3 (18)		29 (20)		53	47
Ileo vs colon	P = 0.029 OR 2.83 (1.10-7.33)
Disease type CD, n (%)	Vienna-Montreal		Vienna-Montreal		Vienna-Montreal		Vienna-Montreal		V-M	V-M
- Inflammatory	37 (50)	48 (64)	66 (54)	86 (71)	7 41)	9 (52)	87 (59)	109 (74)	45/44	55/56
- Stenosing	19 (25)	21 (28)	19 (16)	22 (18)	4 (24)	4 (24)	26 (17)	30 (20)	40/41	60/59
- Penetrating	19 (25)	6 (8)	36 (30)	13 (11)	6 (35)	4 (24)	35 (24)	9 (6)	49/62	51/38
F vs S+ I (according to Montreal)					P = 0.011 OR 4.75 (1.29-17.57)				P = 0.038 OR 2.13 (1.03-4.4)
Growth delay y/n, (%)	24/35 (41)		36/47 (43)		4/5 (44)		54/62 (47)		49/44	51/56
Resective surgery y/n, (%)	23/52 (31)		27/94 (22)		5/12 (29)		26/122 (18)		42/46	58/54
EIM y/n, (%)	27/48 (36)		49/72 (41)		9/8 (53)		58/90 (39)		40/48	60/52
Perianal fistulae y/n, (%)	13/62 (17)		23/98 (19)		2/15 (12)		26/122 (18)		45/45	55/55
ASCA (pos/neg), (%)	31/8 (79)		46/24 (66)		8/3 (73)		63/29 (68)		46/58	54/42
ANCA (pos/neg), (%)	5/26 (16)		13/59 (18)		1/11 (8)		15/66 (19)		44/49	56/51
Steroids need, y/n (%)	48/27 (64)		86/35 (71)		12/5(71)		96/52 (65)		43/48	57/52

P values are corrected for multiple comparisons.