Myocardial infarction is associated with Spl binding site polymorphism of collagen type 1A1 gene

Acta Cardiol. 2006 Jun;61(3):321-5. doi: 10.2143/AC.61.3.2014835.


Objective: Human atherosclerotic lesions contain collagen type I, which plays a pivotal role in atherosclerotic plaque stability. In contrast, the normal coronary arteries do not express this type of collagen. Data have shown that the collagen type 1A1 (COL1A1) gene Sp1 binding site (-1245 G/T) polymorphism is associated with disturbed collagen protein production.

Methods: In our study, COL1A1 gene Sp1 polymorphism was investigated in 136 patients with myocardial infarction (MI) 5 months after the acute phase, and 212 age-matched control subjects in association with any cardiovascular risk factors (such as serum adiponectin levels, hyperinsulinaemic status, hyperlipaemia).

Results: The "SS" genotype of the COL1A1 gene was found to occur significantly more frequently in patients surviving a MI, as compared to the control group and the "Ss" and "ss" genotype frequencies (the presence of the s allele) were lower in our patients, than in control group. However, the occurrence of cardiovascular risk factors was significantly higher among the "s" allelic carriers as compared to patients carrying the "S" allele of the COL1A1 gene.

Conclusion: Our results raise the possibility that COL1A1 gene Sp1 polymorphism might have an impact on the development of MI.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adiponectin / blood
  • Adult
  • Aged
  • Alleles
  • Biomarkers, Tumor / genetics*
  • Blood Glucose / metabolism
  • Body Mass Index
  • C-Reactive Protein / metabolism
  • Collagen Type I / genetics*
  • Collagen Type I, alpha 1 Chain
  • Coronary Artery Disease / blood
  • Coronary Artery Disease / diagnosis
  • Coronary Artery Disease / genetics*
  • Female
  • Follow-Up Studies
  • Genetic Carrier Screening
  • Genetic Predisposition to Disease / genetics
  • Genotype
  • Homozygote
  • Humans
  • Insulin Resistance / genetics
  • Male
  • Middle Aged
  • Myocardial Infarction / blood
  • Myocardial Infarction / diagnosis
  • Myocardial Infarction / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Genetic / genetics*
  • Polymorphism, Restriction Fragment Length
  • Receptors, Immunologic / genetics*
  • Reference Values
  • Risk Factors
  • Transcription, Genetic


  • Adiponectin
  • Biomarkers, Tumor
  • Blood Glucose
  • Collagen Type I
  • Collagen Type I, alpha 1 Chain
  • Receptors, Immunologic
  • trophoblastic beta 1-glycoprotein receptor, human
  • C-Reactive Protein