Role of matrix metalloproteinase, tissue inhibitor of metalloproteinase and tumor necrosis factor-α single nucleotide gene polymorphisms in inflammatory bowel disease

Table 1 Genotype distributions at SNP loci in IBD patients compared to controls

Protein	SNP	Genotype	IBD(% of patients)	Controls(% of individuals)	Allele	IBD(% of total)	Controls(% of total)
MMP-1	-1607 1G/2G	1G1G	31	26.6	1G	55.4	51.4
	11q22-q23	1G2G	49	49.6	2G	44.6	48.6
		2G2G	20.1	23.8
MMP-2	-1306 C/T	CC	57.7	61.9	C	75.5	76.8
	16q13	CT	35.6	29.9	T	24.5	23.2
		TT	6.7	8.2
MMP-3	-1613 5T/6T	5T5T	29.2	27.9	5T	52.3	52
	11q23	5T6T	46.3	48.4	6T	47.7	48
		6T6T	24.6	23.8
MMP-9	-1562 C/T	CC	72.4	69.7	C	85.6	84
	20q11.2-q13.1	CT + TT	27.6	30.3	T	14.4	16
♂, TIMP-11	+372 T/C	T	61.6	51.6	T	61.6	51.6
	Xp11.3-p11.23	C	38.4	48.4	C	38.4	48.4
♀, TIMP-11	+372 T/C	TT	31.2	23.8	T	52.8	50.7
	Xp11.3-p11.23	TC	43.3	53.6	C	47.2	49.3
		CC	25.5	22.5
TIMP-2	+303 G/A	GG	77.5	78.7	G	88.3	89.1
	17q25	GA + AA	22.5	21.3	A	11.7	10.9
TNF-α	-308 G/A	GG	68.8	69.7	G	82.0	83.0
	6p21	GA + AA	31.4	30.3	A	18.0	17.0

n = 239-240/245 IBD patients vs n = 244/248 controls with successful genotype determinations.

¹For TIMP-1, ♂ these numbers are 99/101 vs 93/96 and for TIMP-1, ♀ 141/144 vs 151/152. Note: for MMP-9, TNF-α and TIMP-2 frequency of the homozygote mutant genotype (TT, AA and AA, respectively), was below 5% and these groups were combined with the corresponding heterozygote group, solely for the purpose of accurate statistical analysis. No statistically significant differences (Chi-Square testing) in genotype distributions or allele frequencies were found between IBD and controls.