Polymorphisms in oxidative pathway related genes and susceptibility to inflammatory bowel disease

Table 1 Basic characteristics of inflammatory bowel disease patients n (%)

Patient characteristics		CD (n = 136)	UC (n = 63)
Gender	Male	96	34
	Female	40	29
Age at diagnosis	< 16	16	1
	17-40	79	34
	≥ 40	22	19
	Data not available	19	9
Location of CD	L1 ± L4	38 (28)	-
	L2 ± L4	30 (22)	-
	L3 ± L4	53 (39)	-
	L4	4 (3)	-
	Data not available	11 (8)	-
Behavior of CD	B1 ± p	35 (26)	-
	B2 ± p	47 (34)	-
	B3 ± p	39 (29)	-
	Data not available	15 (11)	-
Location of UC	E1	-	5 (8)
	E2	-	24 (38)
	E3	-	8 (12)
	E4	-	13 (21)
	Data not available	-	13 (21)
Smoking habits	Yes	35	11
	No	67	32
	Data not available	34	20

CD: Crohn’s disease; UC: Ulcerative colitis.

Table 2 Minor Allele Frequencies of HIF1A and NFKB1 genetic variants in inflammatory bowel disease patients and healthy controls from Morocco

Gene	SNP	Group	Number of alleles	MAF (%)	Allele test
					OR (95%CI)	P value
HIF1A	rs11549467	Controls (n = 308)	74/542	12.01
		IBD (n = 199)	50/348	12.56	1.05 (0.72-1.54)	0.79
		CD (n = 136)	36/236	13.24	1.12 (0.73-1.71)	0.61
		UC (n = 63)	14/112	11.11	0.92 (0.50-1.68)	0.77
NFKB1	rs28362491	Controls (n = 308)	257/359	41.72
	-94ATTG ins/del	IBD (n = 199)	167/231	41.96	1.01 (0.78-1.30)	0.93
		CD (n = 136)	113/159	41.54	0.99 (0.74-1.33)	0.96
		UC (n = 63)	54/72	42.86	1.05 (0.71-1.54)	0.81

IBD: Inflammatory bowel disease; CD: Crohn’s disease; UC: Ulcerative colitis; MAF: Minor allele frequencies.

Table 3 Genotype and genetic models distribution of HIF1A and NFKB1 SNPs in inflammatory bowel disease patients and controls n (%)

SNP ID	1/2	Subgroup	Genotype			Genotype 11+12 vs 221		Genotype 11 vs 12+222
						OR (95%CI)	P value	OR (95%CI)	P value
HIF1A	A/G		AA	GA	GG
rs11549467		Controls	4 (1.30)	66 (21.43)	238 (77.27)
		IBD	2 (1.01)	46 (23.12)	151 (75.88)	1.08 (0.71-1.64)	0.71	0.77 (0.14-4.25)	0.76
		CD	2 (1.47)	32 (23.53)	102 (75.00)	1.13 (0.70-1.81)	0.60	1.13 (0.20-6.26)	0.88
		UC	0 (0.00)	14 (22.22)	49 (77.78)	0.97 (0.50-1.86)	0.93	NA	0.99
NFKB1	Del/Ins		del/del	ins/del	ins/ins
rs28362491		Controls	58 (18.83)	141 (45.78)	109 (35.39)
		IBD	37 (18.59)	93 (46.73)	69 (34.67)	1.03 (0.71-1.5)	0.86	0.98 (0.62-1.55)	0.94
		CD	25 (18.38)	63 (46.32)	48 (35.29)	1.00 (0.65-1.53)	0.98	0.97 (0.57-1.63)	0.91
		UC	12 (19.05)	30 (47.62)	21 (33.33)	1.09 (0.61-1.94)	0.75	1.01 (0.50-2.02)	0.96

¹Dominant model;

²Recessive model. IBD: Inflammatory bowel disease; CD: Crohn’s disease; UC: Ulcerative colitis; NA : Not applicable.

Table 4 Allelic frequencies of (CCTTT)n microsatellite polymorphism of NOS2A gene for Moroccan inflammatory bowel disease patients and healthy controls n (%)

Repeat No.	Size (bp)	Controls	IBD	P value	OR (95%CI)
		2n = 596	2n = 382
7	171	2 (0.3)	4 (1.04)	0.16	3.14 (0.57-17.24)
8	176	37 (6.2)	39 (10.2)	0.021	1.71 (1.07-2.74)
9	181	75 (12.5)	54 (14.1)	0.48	1.14 (0.78-1.66)
10	186	89 (15.0)	46 (12.04)	0.20	0.77 (0.53-1.14)
11	191	90 (15.1)	45 (11.8)	0.14	0.75 (0.51-1.10)
12	196	131 (22.0)	81 (21.2)	0.77	0.95 (0.69-1.30)
13	201	99 (16.6)	50 (13.9)	0.13	0.75 (0.52-1.09)
14	206	36 (6.2)	38 (9.9)	0.022	1.71 (1.06-2.76)
15	211	33 (5.5)	22 (5.8)	0.88	1.04 (0.59-1.81)
16	216	4 (0.6)	3 (0.7)	0.83	1.17 (0.26-5.26)

¹P = 0.02, OR (95%CI): 1.71 (1.07-2.74): Bonferroni’s corrected P_c = 0.2;

²P = 0.02, OR (95%CI): 1.71 (1.06-2.76): P_c = 0.2. IBD: Inflammatory bowel disease.

Table 5 Allelic frequencies of (CCTTT)n microsatellite polymorphism of NOS2A gene for Crohn’s disease, ulcerative colitis patients and healthy controls n(%)

Repeat No.	Size (bp)	Controls	CD	P value	OR(95%CI)	UC	P value	OR(95%CI)
		2n = 596	2n = 262			2n = 120
7	171	2 (0.3)	1 (0.4)	0.91	1.13 (0.10-12.6)	3 (2.5)	0.0092	7.61 (1.25-46.08)
8	176	37 (6.2)	30 (11.4)	0.0081	1.95 (1.17-3.23)	9 (7.5)	0.59	1.22 (0.57-2.61)
9	181	75 (12.5)	43 (16.4)	0.13	1.36 (0.90-2.04)	11 (9.1)	0.29	0.70 (0.36-1.36)
10	186	89 (15.0)	33 (12.6)	0.36	0.82 (0.53-1.26)	13 (10.8)	0.24	0.69 (0.37-1.28)
11	191	90 (15.1)	35 (13.3)	0.50	0.86 (0.56-1.32)	10 (8.3)	0.053	0.51 (0.25-1.01)
12	196	131 (22.0)	57 (21.7)	0.94	0.98 (0.69-1.40)	24 (20.0)	0.63	0.88 (0.54-1.44)
13	201	99 (16.6)	31 (11.8)	0.07	0.67 (0.43-1.03)	19 (15.8)	0.83	0.94 (0.55-1.61)
14	206	36 (6.2)	24 (9.1)	0.09	1.56 (0.91-2.68)	14 (11.6)	0.024	2.05 (1.07-3.94)
15	211	33 (5.5)	8 (3.0)	0.11	0.53 (0.24-1.18)	14 (11.6)	0.015	2.25 (1.16-4.35)
16	216	4 (0.6)	0 (0)	0.18	0 (0)	3 (2.5)	0.06	3.79 (0.83-17.18)

¹P = 0.008, OR (95%CI): 1.95 (1.17-3.23): P_c = 0.08;

²P = 0.009; OR (95%CI): 7.61 (1.25-46.08): P_c = 0.09;

³P = 0.05; OR (95%CI): 0.51 (0.25-1.01): P_c = 0.5;

⁴P = 0.02; OR(95%CI): 2.05 (1.07-3.94): P_c = 0.2;

⁵P = 0.01; OR(95%CI): 2.25 (1.16-4.35): P_c = 0.1. CD: Crohn’s disease; UC: Ulcerative colitis.

Table 6 Allele and genotype frequencies of NOS2A TAAA polymorphism in inflammatory bowel disease patients and controls n (%)

	Controls	IBD patients	CD patients	UC patients
	n = 295	n = 190	n = 132	n = 58
Genotype
220/220	189 (64.07)	132 (69.47)	90 (68.18)	42 (72.41)
220/224	97 (32.88)	49 (25.79)	34 (25.76)	15 (25.86)
224/224	9 (3.05)	9 (4.74)	8 (6.06)	1 (1.72)
Allele	2n = 590	2n = 380	2n = 264	2n = 116
220	475 (80.5)	313 (82.4)	214 (81)	99 (85.3)
224	115 (19.5)	67 (17.6)	50 (19)	17 (14.7)

No statistically significant differences were found in any of the comparisons. IBD: Inflammatory bowel disease; CD: Crohn’s disease; UC: Ulcerative colitis.