title: Association of endothelial nitric oxide synthase gene polymorphisms with early-onset ischemic stroke in South Indians.
abstract: OBJECTIVE
  The aim of this study was to investigate the association of T-786C, G894T and 4a/b polymorphisms in the endothelial nitric oxide synthase (eNOS) gene with early-onset ischemic stroke in South Indians.
  
  
  METHODS
  We enrolled 177 patients diagnosed with ischemic stroke aged between 15 to 45 years and 219 age- and gender-matched healthy controls. Genotypes of eNOS T-786C, G894T and 4a/b were identified by polymerase chain reaction and restriction fragment length polymorphism.
  
  
  RESULTS
  The allele and genotype frequencies of eNOS 4a/b, T-786C and G894T did not differ significantly in the patient group compared to controls. Logistic regression analysis indicated the 4a allele to be an independent predictor of ischemic stroke in females (dominant model: OR, 2.46; 95% CI, 1.11 to 5.43; p=0.026). Marked differences were found in the prevalence of the minor alleles of the three variants when comparing the South Indian population with the reported frequencies from Caucasians. There was also a contrast in the frequencies of 4ab and T-786C variants from other Asians. The genotypes of all three variants were found to be in Hardy-Weinberg equilibrium. There was a lack of significant linkage disequilibria among the variants, and none of the estimated haplo-types increased or decreased the risk of ischemic stroke.
  
  
  CONCLUSIONS
  The eNOS intron 4a/b polymorphism can predict early-onset ischemic stroke in south Indian women.
authors.affiliation: Department of Neurochemistry, National Institute of Mental Health and Neuro Sciences, Bangalore 560029, India.
authors.forename: Vijaya
authors.initials: V
authors.lastname: Majumdar
authors.forename: Dindagur
authors.initials: D
authors.lastname: Nagaraja
authors.forename: Nagaraja
authors.initials: N
authors.lastname: Karthik
authors.forename: Rita
authors.initials: R
authors.lastname: Christopher
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002545:Brain Ischemia / Q000453:epidemiology* / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D006239:Haplotypes; D006801:Humans; D007194:India / Q000453:epidemiology; D007438:Introns / Q000235:genetics; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D052250:Nitric Oxide Synthase Type III / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D011237:Predictive Value of Tests; D012307:Risk Factors; D017678:Sex Distribution; D020521:Stroke / Q000453:epidemiology* / Q000235:genetics*; D055815:Young Adult
chemical_list: C496314:NOS3 protein, human; D052250:Nitric Oxide Synthase Type III