Role of transforming growth factor-beta 1 gene polymorphisms in childhood idiopathic thrombocytopenic purpura

J Pediatr Hematol Oncol. 2003 Nov;25(11):885-9. doi: 10.1097/00043426-200311000-00012.

Abstract

Purpose: To investigate whether transforming growth factor-beta 1 (TGF-beta 1) gene polymorphisms have a role in the development, clinical progress, and treatment response in children with idiopathic thrombocytopenic purpura (ITP).

Patients and methods: Thirty-five children with acute ITP, 40 children with chronic ITP, and 97 healthy children were enrolled. After genomic DNA was extracted, TGF-beta 1 gene 509 (C-->T), codon 25 (Arg-->Pro), and codon 10 (Leu-->Pro) polymorphisms were studied using a coupled polymerase chain reaction-restriction enzyme digestion method.

Results: The genotype and allele frequencies of TGF-beta 1 polymorphisms between acute ITP, chronic ITP, and control group did not differ significantly. No significant association was found between TGF-beta 1 polymorphisms and therapy response.

Conclusions: These results demonstrate that the frequency of TGF-beta1 gene 509 (C-->T), codon 25 (Arg-->Pro), and codon 10 (Leu-->Pro) polymorphisms and alleles do not play a role as a genetic risk factor in the development and clinical progress of ITP. Different results may be obtained with further studies involving larger patient populations and other TGF-beta 1 gene polymorphisms.

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Codon
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Infant
  • Male
  • Polymorphism, Genetic*
  • Purpura, Thrombocytopenic, Idiopathic / etiology
  • Purpura, Thrombocytopenic, Idiopathic / genetics*
  • Risk Factors
  • Transforming Growth Factor beta / genetics*
  • Transforming Growth Factor beta1

Substances

  • Codon
  • TGFB1 protein, human
  • Transforming Growth Factor beta
  • Transforming Growth Factor beta1