title: Screening of the NOS3 gene identifies the variants 894G/T, 1998C/G and 2479G/A to be associated with acute onset ischemic stroke in young Asian Indians.
abstract: BACKGROUND
  Nitric oxide levels and NOS3 gene variants play a pivotal role in the development of vascular diseases/stroke. We attempted to determine the role of NOS3 gene variants and plasma NO levels towards the development of ischemic stroke in young Asian-Indians.
  
  
  METHODS
  One hundred ischemic stroke patients and 200 age and sex matched control study subjects were screened for NOS3 gene variants using SSCP [single stranded confirmation polymorphism] and PCR based techniques. Plasma NO metabolites [NOx] were evaluated for the investigated population.
  
  
  RESULTS
  Significantly higher NOx levels were observed in controls [controls 56.63±25.92 μmol/L, patients 34.73±19.88 μmol/L, p<0.001]. The SNPs [single nucleotide polymorphisms] 894G/T, 1998C/G and 2479G/A were found associated with the disease phenotype with the most significant finding observed for 894G/T [χ(2)=36.68, p<0.001]. The SNPs 894G/T and 2479G/A were significantly associated with NOx levels [p=0.001]. The haplotypes TCA and TGA were overrepresented in the patient population [p<0.0001].
  
  
  CONCLUSIONS
  Two NOS3 SNP [894G/T and 2479G/A] variants and NOx levels are associated with ischemic stroke in young Asian Indians. These NOS3 SNPs might represent genetic risk factors for ischemic stroke in young Asian Indians. However these observations need to be confirmed by larger replicate/cross-sectional studies.
authors.affiliation: Department of Haematology, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Mohd Suhail
authors.initials: MS
authors.lastname: Akhter
authors.affiliation: Department of Molecular Biology, Institute of Experimental Haematology and Transfusion Medicine, Bonn, Germany.
authors.forename: Arijit
authors.initials: A
authors.lastname: Biswas
authors.affiliation: Indian Council of Medical Research, New Delhi, India.
authors.forename: Hina
authors.initials: H
authors.lastname: Rashid
authors.affiliation: Department of Haematology, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Luxmi
authors.initials: L
authors.lastname: Devi
authors.affiliation: Department of Neurosciences, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Madhuri
authors.initials: M
authors.lastname: Behari
authors.affiliation: Department of Haematology, All India Institute of Medical Sciences, New Delhi, India. Electronic address: renusaxena@outlook.com.
authors.forename: Renu
authors.initials: R
authors.lastname: Saxena
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D016009:Chi-Square Distribution; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007194:India; D007511:Ischemia / Q000209:etiology; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D009569:Nitric Oxide / Q000097:blood; D052250:Nitric Oxide Synthase Type III / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D020521:Stroke / Q000097:blood / Q000150:complications / Q000235:genetics*; D055815:Young Adult
chemical_list: D009569:Nitric Oxide; C496314:NOS3 protein, human; D052250:Nitric Oxide Synthase Type III
keywords: Haplotyping; Ischemic stroke; NOS3; Nitric oxide; Single nucleotide polymorphism; Young Asian-Indian