title: Association between Endothelial nitric oxide synthase G894T gene polymorphism and risk of ischemic stroke in North Indian population: a case-control study.
abstract: OBJECTIVE
  Stroke is a multi-factorial disease influenced by both genetic and environmental factors. The aim of this case-control study was to determine the association between Endothelial Nitric Oxide Synthase G894T (rs1799983) gene polymorphism and susceptibility to ischemic stroke (IS) in North Indian population.
  
  
  METHODS
  In this present case-control study, genotyping was performed by using Polymerase chain reaction - Restriction fragment length polymorphism (PCR-RFLP) method for 250 IS patients and 250 age and sex matched controls. PCR results were confirmed by DNA sequencing. Frequency distribution of genotypes and alleles were compared between cases and controls using conditional logistic regression.
  
  
  RESULTS
  Hypertension, Diabetes, Dyslipidemia, Low Socioeconomic Status and Family History of Stroke were found to be independent risk factors for IS. Mean age of cases and controls were 52.83 ± 12.59 and 50.97 ± 12.70 years. Multivariate logistic regression analysis showed a significant association between eNOS G894T (rs1799983) polymorphism and risk of IS [OR = 1.57; 95%CI 1.05-2.37; p = 0.028] under dominant model. Based on Trial of Org 10172 in Acute Stroke Treatment classification, an independent association of large vessel disease (LVD) was observed with the risk of IS under the dominant [OR = 2.09; 95% CI 1.17-3.75; p = 0.01] and recessive [4.09 95% CI 1.06-15.68; p = 0.04] models. All the observed genotype frequencies were in accordance with the Hardy-Weinberg equilibrium (HWE) in both cases and controls.
  
  
  CONCLUSIONS
  The findings of the present study suggest that polymorphism in G894T position of eNOS gene might be a risk factor for IS mainly for LVD stroke subtype in North Indian population. Further large prospective studies are required to confirm these findings.
authors.affiliation: a Department of Neurology , All India Institute of Medical Sciences , New Delhi , India.
authors.forename: Amit
authors.initials: A
authors.lastname: Kumar
authors.affiliation: a Department of Neurology , All India Institute of Medical Sciences , New Delhi , India.
authors.forename: Shubham
authors.initials: S
authors.lastname: Misra
authors.affiliation: a Department of Neurology , All India Institute of Medical Sciences , New Delhi , India.
authors.forename: Pradeep
authors.initials: P
authors.lastname: Kumar
authors.affiliation: a Department of Neurology , All India Institute of Medical Sciences , New Delhi , India.
authors.forename: Ram
authors.initials: R
authors.lastname: Sagar
authors.affiliation: a Department of Neurology , All India Institute of Medical Sciences , New Delhi , India.
authors.forename: Kameshwar
authors.initials: K
authors.lastname: Prasad
authors.affiliation: a Department of Neurology , All India Institute of Medical Sciences , New Delhi , India.
authors.forename: Awadh Kishor
authors.initials: AK
authors.lastname: Pandit
authors.affiliation: a Department of Neurology , All India Institute of Medical Sciences , New Delhi , India.
authors.forename: Kamalesh
authors.initials: K
authors.lastname: Chakravarty
authors.affiliation: a Department of Neurology , All India Institute of Medical Sciences , New Delhi , India.
authors.forename: Prachi
authors.initials: P
authors.lastname: Kathuria
authors.affiliation: a Department of Neurology , All India Institute of Medical Sciences , New Delhi , India.
authors.forename: Arun Kumar
authors.initials: AK
authors.lastname: Yadav
mesh_terms: D000328:Adult; D000368:Aged; D002545:Brain Ischemia / Q000150:complications / Q000000981:diagnostic imaging; D016022:Case-Control Studies; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D005998:Glycine / Q000235:genetics*; D006801:Humans; D007194:India / Q000453:epidemiology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D052250:Nitric Oxide Synthase Type III / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012189:Retrospective Studies; D012720:Severity of Illness Index; D020521:Stroke / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000209:etiology / Q000235:genetics*; D013912:Threonine / Q000235:genetics*; D014057:Tomography, X-Ray Computed
chemical_list: D013912:Threonine; D052250:Nitric Oxide Synthase Type III; D005998:Glycine
keywords: Cerebrovascular disease; Endothelial nitric oxide synthase; Ischemic stroke; North India; Polymorphisms