GST genotype may modify clinical phenotype in patients with Fanconi anaemia

Br J Haematol. 2005 Oct;131(1):118-22. doi: 10.1111/j.1365-2141.2005.05721.x.

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 types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Fanconi Anemia / diagnosis*
  • Fanconi Anemia / genetics*
  • Genotype
  • Glutathione Transferase / genetics*
  • Hematologic Diseases / genetics
  • Humans
  • Phenotype
  • Polymorphism, Genetic*
  • Statistics, Nonparametric
  • Time Factors

Substances

  • Glutathione Transferase