Pathologie-biologie · 2015
Association of TGFB1 -509C/T polymorphism gene with clinical variability in cystic fibrosis patients: A case-control study.
Сравнительное исследованиеСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Oueslati S, Hadj Fredj S, Dakhlaoui B, Othmani R, Siala H, Messaoud T
Аннотация
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.
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.
Предметные рубрики MeSH
AdolescentAdultCase-Control StudiesChildChild, PreschoolCystic FibrosisCystic Fibrosis Transmembrane Conductance RegulatorDiabetes MellitusDigestive System DiseasesFemaleHumansIleusInfantInfant, NewbornMaleMeconiumPancreatitisPhenotypePolymerase Chain ReactionPolymorphism, Restriction Fragment LengthPolymorphism, Single NucleotidePromoter Regions, GeneticRespiratory InsufficiencyTransforming Growth Factor beta1Young Adult