Stromelysin-1 (matrix metalloproteinase-3)
Stromelysin-1, also known as matrix metalloproteinase-3, is a matrix
remodeling enzyme that acts on a collagen, proteoglycans, gelatin and
elastin. Matrix composition plays a critical role in lipid accumulation,
vascular remodeling, plaque instability and subsequent
cardiovascular disease. The presence of athe 6A allele in either the
5A/6A or 6A/6A genotype decreases stromelysin-1 levels in the blood
vessels and increases susceptibility for progression of coronary
atherosclerosis. Since the 6A allele is present in about 30-35% of the
population, detection of this mutation may be useful in identifying
subjects who may be at risk for coronary artery disease progression.
Recommendations: Genetic counseling is recommended for both
heterozygotes and homozygotes. In view of the risk for rapid coronary
artery disease progression, physicians may recommend aggressive
lipid lowering therapy and life style changes in subjects with this and
other coronary heart disease risk factors.
Liu PY, Chen JH, Li YH, Wu HL, Shi GY. Synergistic effect of stromelysin-1 (matrix
metallo-proteinase-3) promoter 5A/6A polymorphism with smoking on the onset
of young acute myocardial infarction. Thromb Haemost. 2003 Jul;90(1):132-9.
Humphries SE. The stromelysin-1 (MMP-3) gene and risk of coronary artery
disease: a candidate gene that has won the election? Thromb Haemost. 2003
Gnasso A, Motti C, Irace C, Carallo C, Liberatoscioli L, Bernardini S, Massoud R,
Mattioli PL, Federici G, Cortese C. Genetic variation in human stromelysin gene
promoter and common carotid geometry in healthy male subjects. Arterioscler
Thromb Vasc Biol. 2000 Jun;20(6):1600-5.
Humphries SE, Martin S, Cooper J, Miller G. Interaction between smoking and the
stromelysin-1 (MMP3) gene 5A/6A promoter polymorphism and risk of coronary
heart disease in healthy men. Ann Hum Genet. 2002 Nov;66(Pt 5-6):343-52.
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