Association of a novel single nucleotide polymorphism of the prostacyclin synthase gene with myocardial infarction

Am Heart J. 2002 May;143(5):797-801. doi: 10.1067/mhj.2002.122171.


Background: Myocardial infarction (MI) is a complex multifactorial and polygenic disorder that is thought to result from an interaction between an individual's genetic makeup and various environmental factors. The purpose of this study was to investigate the association between a novel single nucleotide polymorphism in the prostacyclin synthase gene and MI.

Methods and results: By the use of polymerase chain reaction-single-strand conformation polymorphism analysis, we identified a single nucleotide polymorphism, C1117A, in exon 8. This nucleotide change did not cause an amino acid change in codon 373. We performed an association study of the polymorphism in 138 patients and 130 healthy control subjects. Multiple logistic linear regression analysis showed the genotype distributions were significantly different between the control group and the MI group (odds ratio, 2.12; 95% CI, 1.47-3.05, P =.04). The C/C genotype was found more frequently in the MI group than in the control group.

Conclusions: We conclude that the C1117A polymorphism in exon 8 is associated with risk for MI and may be a genetic marker of MI in Japanese persons.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Case-Control Studies
  • Cytochrome P-450 Enzyme System / genetics*
  • DNA Probes
  • Female
  • Genotype
  • Humans
  • Intramolecular Oxidoreductases / genetics*
  • Male
  • Middle Aged
  • Myocardial Infarction / enzymology
  • Myocardial Infarction / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide / genetics*
  • Regression Analysis
  • Risk Factors


  • DNA Probes
  • Cytochrome P-450 Enzyme System
  • Intramolecular Oxidoreductases
  • prostacyclin synthetase