Interaction between - 786TC polymorphism in the endothelial nitric oxide synthase gene and smoking for myocardial infarction in Korean population

Inho Jo, Jesung Moon, Suin Yoon, Hung Tae Kim, Eunkyung Kim, Hyun Young Park, Chol Shin, Jiho Min, Yoon Mi Jin, Seung Hun Cha, Sangmee Ahn Jo

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Background: Nitric oxide (NO) produced by endothelial nitric oxide synthase (eNOS) mediates endothelium-dependent vasodilation and antithrombotic action. Controversial results regarding the association of eNOS gene polymorphisms with myocardial infarction (MI) have been reported. Methods: A total of 932 individuals living in Seoul and the suburb, Korea, were randomly selected. Genomic DNA was prepared from blood leukocytes. A GT missense mutation in exon 7 (894GT) was screened using PCR-RFLP analysis. The genotypes of 3 mutations (- 786TC, - 922AG, and - 1468TA) in the 5′-flanking region were determined by a minisequencing protocol (SNaPshot), respectively. Results: Pair-wise linkage analysis revealed that 3 mutations of - 786TC, - 922AG, and - 1468TA were completely linked with each other (|D′| = 1, r2 = 0.96-1.0). Furthermore, each of these mutant alleles (- 786C, - 922G, or - 1468A), but not 894T allele, was associated with the risk of MI. Multiple logistic regression analysis revealed that each of these mutant alleles was a predictive independent risk factor for the risk of MI (odds ratio, 1.69 for dominant effects, P < 0.05) after age and sex adjustments. Smoking further increased the odds ratio by 2.04 for the risk of MI when it was combined with the mutant alleles. Conclusion: Each of 3 mutations (- 786TC, - 922AG, or - 1468TA) in the 5′-flanking region of eNOS gene may play a role in the pathogenesis of MI in Korean population, and also provides an evidence for a significant interaction between these mutations and smoking.

Original languageEnglish
Pages (from-to)86-92
Number of pages7
JournalClinica Chimica Acta
Issue number1-2
Publication statusPublished - 2006 Mar 1



  • Endothelial nitric oxide synthase gene
  • Korea
  • Myocardial infarction
  • Polymorphism
  • Smoking

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry

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