title: Endothelial nitric oxide synthase gene is associated with vessel stenosis in Korean population.
abstract: BACKGROUND
  Nitric oxide (NO) produced by endothelial NO synthase (eNOS) mediates endothelium-dependent vasodilation and antithrombotic action. Controversial results regarding the association of eNOS gene polymorphisms with vessel stenosis have been reported.
  
  
  METHODS
  Age- and sex-matched 932 individuals (656 subjects having 1-, 2-, and 3-stenosed vessels and 276 controls without stenosis) living in Seoul and surrounding suburbs were selected. A GT missense mutation in exon 7 (894GT) was screened using PCR-restriction fragment length polymorphism analysis. The genotypes of a 27-bp insertion/deletion in intron 4 (eNOS4b/a) and a TC mutation in promoter region of -786 (-786TC) were determined by the banding pattern on gel electrophoresis and a commercially available minisequencing protocol (SNaPshot), respectively.
  
  
  RESULTS
  The eNOS4a allele was highly linked to the -786C allele (r=0.93, P<0.0001) while there was no linkage between eNOS4a allele and 894T allele or between 894T allele and -786C allele. Furthermore, 894T allele, but not eNOS4a (-786C) allele, was associated with the presence, but not the number, of stenosed vessels (odds ratio=1.57 for dominant effect of the T allele, P<0.05, and 1.49 for additive effect, P<0.05). Multiple logistic regression analysis revealed that 894T allele and hypertension were predictive independent risk factors for the presence of vessel stenosis.
  
  
  CONCLUSIONS
  Our data suggest that eNOS gene polymorphisms may play an important role in the pathogenesis of vessel stenosis in Korean population.
authors.affiliation: Department of Biomedical Sciences, National Institute of Health, 5 Nokbun-dong, Eunpyung-gu, Seoul 122-701, South Korea.
authors.forename: Suin
authors.initials: S
authors.lastname: Yoon
authors.forename: Chol
authors.initials: C
authors.lastname: Shin
authors.forename: Hyun-Young
authors.initials: HY
authors.lastname: Park
authors.forename: Jesung
authors.initials: J
authors.lastname: Moon
authors.forename: Eunkyung
authors.initials: E
authors.lastname: Kim
authors.forename: Heung-Tae
authors.initials: HT
authors.lastname: Kim
authors.forename: Jiho
authors.initials: J
authors.lastname: Min
authors.forename: Sangmee Ahn
authors.initials: SA
authors.lastname: Jo
authors.forename: Inho
authors.initials: I
authors.lastname: Jo
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D003251:Constriction, Pathologic / Q000201:enzymology* / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007723:Korea; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D019001:Nitric Oxide Synthase / Q000235:genetics*; D052250:Nitric Oxide Synthase Type III; D011110:Polymorphism, Genetic; D014652:Vascular Diseases / Q000201:enzymology* / Q000235:genetics
chemical_list: C496314:NOS3 protein, human; D019001:Nitric Oxide Synthase; D052250:Nitric Oxide Synthase Type III