Table 1.
Effects of matrix metalloproteinases single nucleotide polymorphisms on promoter activity
| MMP | SNP | Effect of mutation | Influence on promoter activity in vitro | Reference |
| MMP-1 | -1607 1G/2G | Extra Guanine (2G) creates a binding site for transcription factor Ets-1 | Increased in 2G allele (4-fold) | Rutter et al[18] |
| MMP-2 | -1306 C/T | C to T substitution disrupts Sp-1 binding site | Decreased in T-allele | Price et al[22] |
| MMP-2 | -735 C/T | C to T substitution influences Sp-1 binding site | Decreased in T-allele | Yu et al[15] |
| MMP-2 | -790 T/G | Three transcription factors1 bind to T (but not G) allele sequence | Decreased in G allele2 | Vasku et al[28] |
| MMP-2 | -955 A/C | Unknown | Effect unclear | Price et al[22] |
| MMP-2 | -1575 G/A | G to T substitution decreases estrogen receptor α binding | Decreased in A allele | Harendza et al[27] |
| MMP-3 | -1171 5A/6A3 | Transcription suppressor binds with higher affinity to 6A allele | Decreased in 6A allele (2-fold) | Ye et al[19] |
| MMP-3 | Lys45Glu | Lys to Glu substitution in exon 2 of gene | Effect unclear | Ouyang et al[16] |
| MMP-7 | -181 A/G | Nuclear proteins bind with higher affinity to G allele | Increased in G allele4 (2- to 3- fold) | Jormsjö et al[17] |
| MMP-7 | -153 C/T | T allele binds additional nuclear proteins compared with C allele | Increased in T allele4 (2- to 3- fold) | Jormsjö et al[17] |
| affinity for proteins that bind to both alleles higher in C allele | ||||
| MMP-8 | -799 C/T | Influences binding of transcription factor? | Increased in T allele5 | Wang et al[23] |
| MMP-8 | 17 C/G | Influences binding of transcription factor? | Increased in G allele5 | Wang et al[23] |
| MMP-9 | -90 CA(n) | Number of repeats influences strength of nuclear binding | Increased in n = 21 vs n = 14, n = 18 | Shimajiri et al[12] |
| MMP-9 | -1562 C/T | C to T substitution disrupts nuclear protein binding site | Increased in T allele | Zhang et al[20] |
| MMP-9 | R279Q | Arg to Gln substitution in fibronectin type II domains | Effect unclear6 | Wu et al[13] |
| MMP-9 | P574R | Pro to Arg substitution in hemopexin domain | Effect unclear6 | Wu et al[13] |
| MMP-9 | R668Q | Arg to Gln substitution in hemopexin domain | Effect unclear6 | Wu et al[13] |
| MMP-12 | -82 A/G | A to G substitution results in decreased affinity for transcription factor AP-1 | Decreased in G allele | Jormsjö et al[21] |
| MMP-12 | 1082 A/G | Asn to Ser substitution at coding region of hemopexin domain | Effect unclear | Joos et al[25] |
| MMP-13 | -77 A/G | A to G substitution results in decreased affinity for transcription factor AP-1 | Decreased in G allele (2-fold) | Yoon et al[24] |
| MMP-21 | C572T | Ala to Val substitution in enzymes catalytic domain | Effect unclear | Shagisultanova et al[29] |
| TIMP-1 | 372 C/T | Unknown, located in exon 5, no effect on transcription or amino-acid sequence | Effect unclear | Hinterseher et al[26] |
| TIMP-2 | -418 G/C | G to C substitution results in disruption of Sp-1 binding site | Decreased in C allele2 | Hirano et al[30] |
| TIMP-2 | 303C/T | Unknown, located in exon 3, no effect on transcription or amino-acid sequence | Effect unclear | Kubben et al[14] |
1
The three transcription factors are: GKLF (Gut-enriched Krueppel-like factor), S8 and Evi1 (ectopic viral integration site 1 encoded factor);
2
Not confirmed;
3
Formerly known as -1612 5A/6A;
4
Only in combination MMP-7 -181G/-153T;
5
Only in combination MMP-8 -799T/-381G/+17G, in cells resembling chorion cytotrophoblasts;
6
Probably influences substrate binding and inhibitor binding. MMP: Matrix metalloproteinase; SNP: Single-nucleotide polymorphisms; TIMP: Tissue inhibitor of metalloproteinase.