title: TGFB1 Gene Promoter Polymorphisms in Serbian Asthmatics.
abstract: BACKGROUND
  Asthma is a chronic respiratory disease caused by a combination of genetic and environmental factors. Transforming growth factor beta 1 (TGFB1) is a multifunctional cytokine that plays an important role in airway remodeling in asthma.
  
  
  OBJECTIVE
  The aim of this study was to analyze common TGFB1 gene promoter polymorphisms C-509T and G-800A in Serbian asthmatics and to investigate their association with exacerbations.
  
  
  METHODS
  The study involved 102 asthmatics and 58 healthy individuals from Serbia, age and gender matched. An analysis of the TGFB1 promoter was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
  
  
  RESULTS
  For polymorphism C-509T a significant difference in the allele frequency was observed between the patients and the controls (p = 0.011), while the genotype distribution was similar in the analyzed groups, with statistical significance near the borderline (p = 0.061). For the polymorphism G-800A no difference was observed between the groups. The frequency of the -509TT genotype was higher in patients with exacerbations compared to patients without exacerbations (36.4% vs. 17.0%), with statistical significance near the borderline (p = 0.080).
  
  
  CONCLUSIONS
  The results suggest that polymorphism C-509T may be associated with asthma and disease exacerbations, while G-800A is not significant for the etiology and clinical course of the disease. These findings should be confirmed in a larger study group, and since the TGFB1 promoter is highly complex and very responsive to environmental factors, future studies should also take other genetic and non-genetic factors into consideration.
authors.affiliation: Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Serbia.
authors.forename: Sandra
authors.initials: S
authors.lastname: Dragicevic
authors.affiliation: Department of Pulmonology, Zvezdara University Medical Center, Belgrade, Serbia.
authors.forename: Natasa
authors.initials: N
authors.lastname: Petrovic-Stanojevic
authors.affiliation: Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Serbia.
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Nikolic
mesh_terms: D000328:Adult; D001249:Asthma / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D016022:Case-Control Studies; D018450:Disease Progression; D005260:Female; D005541:Forced Expiratory Volume; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008168:Lung / Q000503:physiopathology*; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011379:Prognosis; D011401:Promoter Regions, Genetic; D012307:Risk Factors; D055771:Serbia; D053773:Transforming Growth Factor beta1 / Q000235:genetics*; D014797:Vital Capacity
chemical_list: C508960:TGFB1 protein, human; D053773:Transforming Growth Factor beta1
keywords: asthma; gene polymorphism; transforming growth factor beta 1