Genetic Variation in the Human Stromelysin Promoter is Associated with Progression of Coronary Atherosclerosis

Genetic polymorphisms in the MMP‐1 and MMP‐3 gene may contribute to chronic periodontitis in a Brazilian population

“…A 5A/6A functional polymorphism at position in the −1612 of the MMP‐3 (stromelysin‐3) gene promoter has been associated with atherosclerosis in a number of genetic epidemiological studies (Ye et al 1995, de Maat et al 1999). The frequency of the 5A allele is significantly higher in affected individuals than in control subjects, and the risk of acute myocardial infarction in individuals carrying one or two copies of the 5A allele was estimated to be 2.25‐fold (Terashima et al 1999, Ye 2000).…”

Genetic Diversity in the Matrix Metalloproteinase Family: Effects on Function and Disease Progressiona

“…In vitro transient transfection studies showed an approximately twofold difference in expression driven by the two alleles, with the 5A allele being the more active. Analysis of genetic association in two clinical trials (STARS and REGRESS) showed that this variant was not associated with myocardial infarction, but was associated with lesion progression as assessed by quantitative coronary angiography 13,15. In the REGRESS trial we could also show a significant increased risk for development of angiographically visible new lesions in those homozygous for the 6A allele compared with other genotypes: relative risk 2.3 (1.14–4.68).…”

“…Information on the gene organization was limited, but data had been published on the MMP‐3 promoter 12. Focusing our attentions on this region, we identified a single base insertion‐deletion polymorphism (5A/6A) at a position 1,612 bases 5′ of the start of transcription, estimated to have a population frequency of 0.49 13. We observed that nuclear proteins bound to this stretch of the promoter and that one of these protein bands appeared to bind differentially depending on the allelic sequence 14.…”