GST genotype may modify clinical phenotype in patients with Fanconi anaemia. Academic Article uri icon

Overview

abstract

  • In the search for genetic modifiers of the Fanconi anaemia (FA) phenotype, we examined the role of polymorphism in three glutathione s-transferase genes (GSTT1, GSTM1 and GSTP1) in 356 FA patients enrolled in the International Fanconi Anaemia Registry (IFAR). Cellular sensitivity to 1,2:3,4 diepoxybutane was significantly increased in GSTT1 deleted compared with GSTT1 positive cases (median chromosomal breaks 11.1 vs. 8.3, P < 0.01) but there was no effect on clinical manifestations of FA. GSTM1 genotype significantly influenced time to bone marrow failure in complementation group FA-C, (median age 3.0 years vs. 7.0 years, P < 0.01). GSTP1 genotype did not influence FA phenotype.

publication date

  • October 1, 2005

Research

keywords

  • Fanconi Anemia
  • Glutathione Transferase
  • Polymorphism, Genetic

Identity

Scopus Document Identifier

  • 27744531787

PubMed ID

  • 16173971

Additional Document Info

volume

  • 131

issue

  • 1