Assessment of TNF α (-863) and TNF α (-308) genes polymorphism in cystic fibrosis patients and contribution with clinical finding

Authors

1 Pediatric respiratory disease research center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran

2 Department of Pediatrics, Mofid children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran

3 Department of Biotechnology, School of Advanced Technologies in Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran

4 Mycobacteriology Research Centre (MRC), National Research Institute of Tuberculosis and Lung Disease (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran

5 Department of Pediatrics, Mofid children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran

6 Student Research committee, School of Medicine, Sahid Beheshti University of Medical siences, Tehran, Iran

Abstract

Background: Recent studies have shown that the course of cystic fibrosis (CF) in patients with this disease differs despite the same mutation in CFTR gen.The purpose of this study was to investigate the role polymorphism in TNF α (-308) and TNF α (-863) and its effect on the phenotype of the patients with CF and progression of disease.
Methods: 50 children with CF and 50 healthy children were examined for TNF-α-308GA and TNF α-863CA polymorphism. 4mls of citrated blood got from the patients in order to operate the DNA purifying and PCR-RFLP. With custom designed primers, PCR was done. Then with restriction enzymes PCR-RFLP was done on the product of previous PCR. Changes were analyzed with consideration for dependents like; diagnosis age, starting point of the pulmonary disease, Hb O2 saturation level, FEV1 and FVC. Also for each of them, a Schwachman index basis score were calculated and results are to be mentioned.
Results: Patients with genotype TNF-α-308GA were older in diagnostic time compared to the other group with TNF-α-308GG genotype. However, for other variables, such as o2sat, FEV1, FVC no difference was observed. Patients Heterozygote genotypes for C allele (CA) of TNF-863 have better Schwachman score than CC genotype.
Conclusion: The results emphasize the importance of genetic factors affecting inflammatory processes they affect the severity and progression of the disease and in patients with more translation of TNF α and more inflammation.The schawman Index was found to be worse. Identifying these variables is helpful in treating patients with CF.

Keywords