title: Transforming growth factor-β1 (C509T, G800A, and T869C) gene polymorphisms and risk of ischemic stroke in North Indian population: A hospital-based case-control study.
abstract: BACKGROUND
  Transforming growth factor-beta 1 (TGF-β1) is a multifunctional pleiotropic cytokine involved in inflammation and pathogenesis of cerebrovascular diseases. There is limited information on the association between variations within the TGF-β1 gene polymorphisms and risk of ischemic stroke (IS). The aim of this study was to investigate the association of the TGF-β1 gene (C509T, G800A, and T869C) polymorphisms, and their haplotypes with the risk of IS in North Indian population.
  
  
  METHODS
  A total of 250 IS patients and 250 age- and sex-matched controls were studied. IS was classified using the Trial of Org 10172 in Acute Stroke Treatment classification. Conditional logistic regression analysis was used to calculate the strength of association between TGF-β1 gene polymorphisms and risk of IS. Genotyping was performed using SNaPshot method.
  
  
  RESULTS
  Hypertension, diabetes, dyslipidemia, alcohol, smoking, family history of stroke, sedentary lifestyle, and low socioeconomic status were found to be associated with the risk of IS. The distribution of C509T, G800A and T869C genotypes was consistent with Hardy-Weinberg Equilibrium in the IS and control groups. Adjusted conditional logistic regression analysis showed a significant association of TGF-β1 C509T (odds ratio [OR], 2.1; 95% CI; 1.2-3.8;P= 0.006), G800A (OR, 4.4; 95% CI; 2.1-9.3;P< 0.001) and T869C (OR, 2.6; 95% CI; 1.5-4.5;P= 0.001) with the risk of IS under dominant model. Haplotype analysis showed that C509-A800-T869 and T509-G800-C869 haplotypes were significantly associated with the increased risk of IS. C509T and T869C were in strong linkage disequilibrium (D' =0.51,r2= 0.23).
  
  
  CONCLUSIONS
  Our results suggest that TGF-β1 polymorphisms and their haplotypes are significantly associated with the risk of IS in North Indian population.
authors.affiliation: Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Pradeep
authors.initials: P
authors.lastname: Kumar
authors.affiliation: Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Shubham
authors.initials: S
authors.lastname: Misra
authors.affiliation: Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Amit
authors.initials: A
authors.lastname: Kumar
authors.affiliation: Department of Functional Genomics, Institutes of Genomics and Integrative Biology, New Delhi, India.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Faruq
authors.affiliation: Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Sunil
authors.initials: S
authors.lastname: Shakya
authors.affiliation: Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Gyan
authors.initials: G
authors.lastname: Vardhan
authors.affiliation: Department of Neurobiochemistry, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Subiah
authors.initials: S
authors.lastname: Vivekanandhan
authors.affiliation: Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Achal Kumar
authors.initials: AK
authors.lastname: Srivastava
authors.affiliation: Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Kameshwar
authors.initials: K
authors.lastname: Prasad
keywords: Cytokine; inflammatory gene; ischemic stroke; single nucleotide polymorphisms; transforming growth factor beta