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Updated: Apr 5, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
Published on: April 1, 2019
Association of TGFB1 -509C/T polymorphism gene with clinical variability in cystic fibrosis patients: A case-control
S Oueslati1, S Hadj Fredj1, B Dakhlaoui1
1Biochemistry Laboratory (Research Laboratory Haemoglobinopathies and Cystic Fibrosis), Children's Hospital, Bab Saadoun Square, 1007 Tunis, Tunisia.
Purpose:
In this work, we are interested to study the implication of -509C/T polymorphism, located in the promoter region of TGFB1 (transforming growth factor β1), in the phenotypic variability of CF patients.
Patients And Methods:
The present study enrolled 111 CF patients and 100 healthy control subjects. The study of the -509C/T polymorphism was performed using PCR-RFLP method.
Results:
We found that patients carried non-F508del homozygous mutation with TT genotype was associated to lung symptoms (P=0.04). This association was not found in the sub-groups of patients with F508del at homozygous state P=0.145. No association was found between this polymorphism and the variability of digestive, pancreatic and ileus meconial symptoms.
Conclusion:
On the basis of our results, the -509C/T polymorphism of the TGFB1 gene seems to be a modulator factor of cystic fibrosis.
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