title: Screening of the GPX3 gene identifies the "T" allele of the SNP -861A/T as a risk for ischemic stroke in young Asian Indians.
abstract: BACKGROUND
  Deficiency of plasma glutathione peroxidase (GPx-3) has been associated with platelet-dependent thrombosis. Single-nucleotide polymorphisms (SNPs) in the promoter region of GPX3 gene have been found associated with the risk for ischemic stroke in Caucasian populations. The aim of our present study was to evaluate the impact of genetic variations in the GPX3 gene and plasma GPx-3 antigen levels on ischemic stroke in young Asian Indians.
  
  
  METHODS
  One hundred patients with ischemic stroke and 200 age- and sex-matched controls were studied. Genetic analysis for the study population was done by a combination of variant screening using single-stranded conformation polymorphism and final genotyping by polymerase chain reaction-restriction fragment length polymorphism and allele-specific polymerase chain reactions. Plasma GPx-3 antigen levels were evaluated using commercial kits. Data were analyzed using genetic analysis software and statistical tools.
  
  
  RESULTS
  Significantly higher GPx-3 levels were observed in controls compared with patients (controls 26.37 ± 3.66 μg/mL and patients 22.83 ± 4.57 μg/mL, P < .001). Only the SNP -861A/T was found associated with stroke phenotype (P < .0001). The SNP -568T/C was observed to significantly influence plasma GPx-3 levels (P < .05). The haplotype carrying the risk "T" allele of SNP -861A/T was significantly over-represented in patients with stroke (P < .0001).
  
  
  CONCLUSIONS
  The T allele of -861A/T is a risk allele for the ischemic stroke phenotype. The -861A/T and -568T/C SNPs may show a statistically significant association with both plasma GPx-3 antigen levels and the stroke phenotype in a larger sample size.
authors.affiliation: Department of Haematology, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Mohammad S
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: D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D002545:Brain Ischemia / Q000097:blood / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D005838:Genotype; D005979:Glutathione Peroxidase / Q000097:blood / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D020521:Stroke / Q000097:blood / Q000235:genetics*; D055815:Young Adult
chemical_list: C486484:GPX3 protein, human; D005979:Glutathione Peroxidase
keywords: Asian Indian; GPX3; Ischemic stroke; haplotype; plasma glutathione peroxidase; single-nucleotide polymorphism