Association of tumor necrosis factor-α and -β gene polymorphisms in inflammatory bowel disease

Figures & data

Table 1 Demographic and characteristic features of IBD patients

Total patients	179
Male: female	89:90
Age at diagnosis in years, mean (range)
CD	32 (17–65)
UC	34 (22–68)
Symptoms and presentation, number (%)
Abdominal pain	125 (69.83)
Decreased oral intake	45 (25.14)
Diarrhea	124 (69.27)
Failure to thrive	41(22.90)
Rectal bleeding	89 (49.72)
Vomiting	43 (24.02)
Family history of IBD	20 (11.23)

Abbreviations: UC, ulcerative colitis; CD, Crohn’s disease; IBD, inflammatory bowel disease.

Table 2 Extent of disease for UC patients (n=84)

Type of UC (disease extent)	n (%)
E1 (proctitis, limited to rectum)	13(15.48)
E2 (left sided, limited to colonic mucosa distal to splenic flexure)	21(25)
E3 (extensive, extends proximal to splenic flexure)	50 (59.52)

Abbreviations: n, number of patients; UC, ulcerative colitis.

Table 3 Extent of disease for CD patients (n=95)

L: Location	n (%)
L1 (terminal ileal disease)	29 (30.53)
L2 (colonic disease)	9 (9.47)
L3 (ileocolonic disease)	52 (54.74)
L4 (concomitant/isolated UGI disease)	5 (5.26)
B: Behavior
B1 (nonstricturing, nonpenetrating)	62 (65.26)
B2 (stricturing)	24 (25.26)
B3 (penetrating)	9 (9.48)
Perianal disease:
Yes	29 (30.53)
No	66 (69.47)

Abbreviations: n, number of patients; CD, Crohn’s disease.

Table 4 Genotype and allele frequencies of TNF-α (−308G/A) polymorphism in IBD patients and controls

Genotype/allele	IBD (n=179)		Control (n=200)		P-value	RR	EF/PF
	N	%	N	%
GG	5	2.79	110	55	0.00001a	0.235	0.123
GA	173	96.65	76	38	0.0001a	47.044	0.080b
AA	1	0.56	14	7	0.0009a	0.075	0.449
G-allele	183	51.12	296	74	0.0001a	0.367	0.397
A-allele	175	48.88	104	26	0.0001a,c	2.722	0.396b

Notes:

a Statistically significant,

b data for EF,

c 95% confidence interval = 1.66–4.45.

Abbreviations: n, number of genotype/allele; EF, etiologic fraction; PF, preventive fraction; TNF-α, tumor necrosis factor-alpha; RR, relative risk; IBD, inflammatory bowel disease.

Table 5 Genotype and allele frequencies of TNF-α (−308G/A) polymorphism in CD, UC patients, and controls

Genotype/allele	CD (95)	UC (84)	Control (200)
	n (%)	n (%)	n (%)
GG	3 (3.16)*	2 (2.38)*	110 (55)
GA	91 (95.79)*	82 (97.62)*	76 (38)
AA	1 (1.05)*	0 (0.0)*	14 (7)
G-allele	97 (51.05)*	86 (51.19)*	296 (74)
A-allele	93 (48.95)*	82 (48.81)*	104 (26)

Note:

* P-value <0.05 compared to the frequency in controls.

Abbreviations: CD, Crohn’s disease; UC, ulcerative colitis; n, number of genotype/allele; TNF-α, tumor necrosis factor-alpha.

Table 6 Genotype and allele frequencies of TNF-β (+252A/G) polymorphism in IBD patients and controls

Genotype/allele	IBD (n=179)		Control (n=200)		P-value	RR	EF/PF
	N	%	N	%
GG	39	21.79	28	14	0.05b	1.711	0.241a
GA	120	67.04	148	74	0.14	0.714	0.151
AA	20	11.17	24	12	0.87	0.922	0.037
G-allele	198	55.31	204	51	0.24c	1.189	0.078a
A-allele	160	44.69	196	49	0.24	0.841	0.078

Notes:

a Data for EF;

b statistically significant;

c 95% confidence interval =0.631–1.11.

Abbreviations: n, number of genotype/allele; RR, relative risk; EF, etiologic fraction; PF, preventive fraction; TNF-β, tumor necrosis factor-beta; IBD, inflammatory bowel disease.

Table 7 Genotype and allele frequencies of TNF-β (+252A/G) polymorphism in CD, UC patients, and controls

Genotype/allele	CD (n=95)	UC (n=84)	Control (n=200)
	n (%)	n (%)	n (%)
GG	16 (16.84)	23 (27.38)*	28 (14)
GA	69 (72.63)	51 (60.72)*	148 (74)
AA	10 (10.53)	10 (11.90)	24 (12)
G-allele	101 (53.16)	97 (57.74)	204 (51)
A-allele	89 (46.84)	71 (42.26)	196 (49)

Note:

* P-value <0.05 compared to the frequency in controls.

Abbreviations: CD, Crohn’s disease; UC, ulcerative colitis; n, number of genotype/allele; TNF-β, tumor necrosis factor-beta.

Table 8 Genotype and allele frequencies of TNF-β (+252A/G) polymorphism in IBD male and female patients

Genotype/allele	Male (n=89)		Female (n=90)		P-value
	N	%	n	%
GG	23	25.84	16	17.78	0.209
GA	57	64.05	63	70.00	0.429
AA	9	10.11	11	12.22	0.813
G-allele	103	57.87	95	52.78	0.340
A-allele	75	42.13	85	47.22	0.340

Abbreviations: n, number of genotype/allele; TNF-β, tumor necrosis factor-beta; IBD, inflammatory bowel disease.

Table 9 Genotypes and alleles of TNF-β (+252A/G) polymorphism in familial and sporadic IBD patients

Genotype/allele	Familial (n=22)		Sporadic (n=157)		P-value
	N	%	n	%
GG	4	18.18	35	22.29	0.780
GA	15	68.18	105	66.88	1.000
AA	3	13.64	17	10.83	0.717
G-allele	23	52.27	175	55.73	0.746
A-allele	21	47.73	139	44.27	0.746

Abbreviations: n, number of genotype/allele; TNF-β, tumor necrosis factor-beta; IBD, inflammatory bowel disease.

Figure 1 The amplification of TNF-α (−308G/A) genotypes (GG, GA, and AA).

Notes: Lane M: 100 bp DNA marker. Lanes 1, 3, and 5: amplification of allele G. Lanes 2,4, and 6: amplification of allele A. A184 bp band for target DNA and 329 bp band for internal control were used.

Abbreviation: TNF-α, tumor necrosis factor-alpha.

Figure 2 The amplification of TNF-β (+252A/G) genotypes (GG and GA).

Notes: Lane M: 100 bp DNA marker. Lanes 1, 3, and 5: amplification of allele G. Lanes 2,4, and 6: amplification of allele A. A 94 bp band for target DNA and 240 bp band for internal control were used.

Abbreviation: TNF-β, tumor necrosis factor-beta.