Gene Polymorphisms Promoter Activity Associated pathology Tumor disease Non tumor disease MMP1 -1607 1G/2G Higher ↑ Risk: lung [13] and colorectal [14] cancer, renal cell carcinoma [15] Poor prognosis: breast [16] and ovarian [17] cancer, cutaneous malignant melanoma [18] ↑ Risk: idiopathic pulmonary fibrosis [19] Poor prognosis: cirrhosis [20] MMP2 -1575 G/A Lower Breast cancer [21] (in vitro MCF-7 cells)   - 1306 C/T Lower ↓ Risk: esophageal[22] and lung [23] cancer, gastric cardia adenocarcinoma [24], oral squamous cell carcinoma [25] ↓ Risk: lumbar disc disease [26] -735 C/T Lower ↓ Risk: esophageal [22] and lung [23] cancer   MMP3 -1171 5A/6A Lower ↓ Risk: lung [27], breast [28] and oral [29] cancer ↑ Risk: atherosclerosis [30], myocardial infarction [31], aortic aneurysm [32] Poor prognosis: rheumatoid arthritis [33] MMP7 -181 A/G Higher ↑ Risk: gastric [34], cervical [35] and oral [36] cancer, esophageal squamous cell carcinoma  and non-small cell lung carcinoma [37] Poor prognosis: atherosclerosis [38] MMP8 -799 C/T Higher Better prognosis: breast cancer [39] ↑Risk: preterm premature rupture of membrane (haplotype) [40] -381 A/G Higher   ↑Risk: preterm premature rupture of membrane (haplotype) [40] +17 C/T Higher ↓ Risk: lung cancer [41] ↑Risk: preterm premature rupture of membrane (haplotype) [40] MMP9 -1562 C/T Higher ↑Risk: oral cancer [42,43] ↑Risk: atherosclerosis [44], abdominal aortic aneurysm [45], myocardial ischemia [46], schizophrenia [47], bipolar mood disorders [48,49], varicose vein [50] (CA)n Higher > 20 ↑Risk: bladder cancer [51] ↑Risk: carotid atherosclerosis [52], multiple sclerosis [53] Microsatellite CA repeats   Cerebral aneurysm [54], age-related macular degeneration [55] MP12 -82 A/G Lower Poor prognosis: bladder cancer [51]

Table 1: Functional polymorphism in MMPs promoters.