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Faculty of Medicine, Department of Biochemistry
Bul. Zorana Đinđića 81, 18000 Niš, Serbia
TRANSFORMING GROWTH FACTOR Β1 C-509T GENE POLYMORPHISM IN PATIENTS WITH BRONCHIAL ASTHMA
Milena Despotović1, Tatjana Jevtović-Stoimenov1, Ivana Stanković2,3, Dušica Pavlović1, Branka Đorđević1, Jelena Bašić1, Andrej
University of Niš, Faculty of Medicine3, Serbia
Bronchial asthma is a poligenic disorder caused by the influence of genetic and envioromental factors. The functional single nucleotide polymorphism (SNPs) in the regulatory regions of the cytokine genes may affect the cytokine production and thus play a contributory role in the pathogenesis of asthma. Substitution of cytosine (C) by thymine (T) at the position -509 in the promoter region of the transforming growth factor β1 (TGF-β1) gene could be associated with asthma.
The aim of this study was to investigate the association of the TGF-β1 C-509T polymorphism with asthma and to determine the distribution of this polymorphism in the Serbian population.
A total of 57 patients with diagnosed asthma and 49 healthy controls were screened for TGF-β1 C-509T polymorphisms using the polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP) method.
The TGF-β1 C-509T genotype (p=0.413) and allele frequencies (p=0.227) distri-butions in patients did not reveal statistically significant difference compared to controls. Additionally, no difference in genotype and allele frequencies distribution between male and female subjects was observed.
In conclusion, to the best knowledge of the authors, this is the first study exa-mining the association of TGF-β1 C-509T polymorphism in the Serbian patients with asthma. The present study did not confirm the specific role of TGF-β1 C-509T poly-morphisms in asthma. No differences in the distribution of TGF-β1 C-509T polymorphism between patients and healthy subjects were observed. Acta Medica Medianae 2014; 53(4):22-26.
Key words: bronchial asthma, transforming growth factor-β1 (TGF-β1), gene polymorphism