title: Association of the five gene related endothelial cell dysfunction polymorphisms with Buerger's disease development.
abstract: BACKGROUND
  The aim of this study was to evaluate the impact of the polymorphisms of four genes related to vascular endothelium dysfunction on the development and outcome of Buerger's disease (BD). The genes studied were eNOS-786 T>C, eNOS894 G>T, ET-1 8000 T>C, PAI-1 4G/5G and ACE I/D.
  
  
  METHODS
  Polymerase chain reaction and restriction fragment analysis were used to detect eNOS-786 T>C, eNOS894 G>T, ET-1 8000 T>C, PAI-1(4G/5G) and ACE(I/D) polymorphisms in 36 BD patients and 36 healthy individuals matched for race, age and gender. A decision tree for predicting BD was drawn using Rapidminer 5.3 software.
  
  
  RESULTS
  The frequency of eNOS-T786C alleles was significantly different between the BD group and the healthy controls (P<0.001, OR:6.1). The frequency of PAI-1(4G/5G) alleles was significantly different between the BD group and the healthy controls (P=0.005, OR:4.9). The frequency of eNOS G894T alleles was not statistically different between BD and the healthy controls (P=0.09). No significant difference between allele frequency of ACE(I/D) was found (P=0.07). There was, also, no significant difference between the allele frequency of ET-1 8000 T>C (P=0.1). In logistic regression analysis, the C allele for eNOS-786 and 4G/4G for PAI-1 were significant for predicting BD. According to the decision tree, the proportion of the current gene-polymorphisms likely to develop BD was calculated as maximum 27.7%.
  
  
  CONCLUSIONS
  It seems that eNOS-T786C, PAI-1(4G/5G) are important polymorphisms in developing BD. However, the decision tree might give confidence to the families of BD patients that if they maintain a healthy lifestyle, they may not develop BD.
authors.affiliation: Inflammation and Inflammatory Diseases Research Center, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran - dadgarmm@mums.ac.ir.
authors.forename: Mitra
authors.initials: M
authors.lastname: Masoudian
authors.forename: Bahare
authors.initials: B
authors.lastname: Fazeli
authors.forename: Hiva
authors.initials: H
authors.lastname: Sharebiani
authors.forename: Atta'ollah
authors.initials: A
authors.lastname: Rajabnejad
authors.forename: Hassan
authors.initials: H
authors.lastname: Ravari
authors.forename: Mohammad M
authors.initials: MM
authors.lastname: Akbarin
authors.forename: Maliheh
authors.initials: M
authors.lastname: Dadgarmoghaddam
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D042783:Endothelial Cells / Q000378:metabolism*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D007492:Iran; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D052250:Nitric Oxide Synthase Type III / Q000235:genetics*; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D017395:Plasminogen Activator Inhibitor 1 / Q000235:genetics*; D011110:Polymorphism, Genetic; D013919:Thromboangiitis Obliterans / Q000235:genetics*
chemical_list: D017395:Plasminogen Activator Inhibitor 1; C051321:SERPINE1 protein, human; C496314:NOS3 protein, human; D052250:Nitric Oxide Synthase Type III; C488034:ACE protein, human; D007703:Peptidyl-Dipeptidase A