Association of TGFB1 -509C/T polymorphism gene with clinical variability in cystic fibrosis patients: A case-control study.
OBJECTIVE
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.


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.


CONCLUSIONS
On the basis of our results, the -509C/T polymorphism of the TGFB1 gene seems to be a modulator factor of cystic fibrosis.
Biochemistry Laboratory (Research Laboratory Haemoglobinopathies and Cystic Fibrosis), Children's Hospital, Bab Saadoun Square, 1007 Tunis, Tunisia. Electronic address: sabrineoueslati@yahoo.fr.
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Oueslati
Biochemistry Laboratory (Research Laboratory Haemoglobinopathies and Cystic Fibrosis), Children's Hospital, Bab Saadoun Square, 1007 Tunis, Tunisia.
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Hadj Fredj
Biochemistry Laboratory (Research Laboratory Haemoglobinopathies and Cystic Fibrosis), Children's Hospital, Bab Saadoun Square, 1007 Tunis, Tunisia.
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B
Dakhlaoui
Biochemistry Laboratory (Research Laboratory Haemoglobinopathies and Cystic Fibrosis), Children's Hospital, Bab Saadoun Square, 1007 Tunis, Tunisia.
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Othmani
Biochemistry Laboratory (Research Laboratory Haemoglobinopathies and Cystic Fibrosis), Children's Hospital, Bab Saadoun Square, 1007 Tunis, Tunisia.
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Siala
Biochemistry Laboratory (Research Laboratory Haemoglobinopathies and Cystic Fibrosis), Children's Hospital, Bab Saadoun Square, 1007 Tunis, Tunisia.
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T
Messaoud
D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000150:complications / Q000235:genetics* / Q000473:pathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D003920:Diabetes Mellitus / Q000209:etiology; D004066:Digestive System Diseases / Q000209:etiology; D005260:Female; D006801:Humans; D045823:Ileus / Q000209:etiology; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008470:Meconium; D010195:Pancreatitis / Q000209:etiology; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic / Q000235:genetics; D012131:Respiratory Insufficiency / Q000209:etiology; D053773:Transforming Growth Factor beta1 / Q000235:genetics*; D055815:Young Adult
C505032:CFTR protein, human; C508960:TGFB1 protein, human; D053773:Transforming Growth Factor beta1; D019005:Cystic Fibrosis Transmembrane Conductance Regulator
Clinical expression; Cystic fibrosis; Expression clinique; Gène TGFB1; Mucoviscidose; Polymorphisme −509C/T; TGFB1 gene; −509C/T polymorphism