GST genotype may modify clinical phenotype in patients with Fanconi anaemia

Stella M. Davies, Gretchen A. Radloff, Todd E. DeFor, Orna Levran, Sat Dev Batish, Helmut Hanenberg, Arleen D. Auerbach

Research output: Contribution to journalArticle

15 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)118-122
Number of pages5
JournalBritish journal of haematology
Volume131
Issue number1
DOIs
StatePublished - Oct 1 2005

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Keywords

  • Bone marrow failure
  • Fanconi anaemia
  • GSTM1
  • GSTP1
  • GSTT1

ASJC Scopus subject areas

  • Hematology

Cite this

Davies, S. M., Radloff, G. A., DeFor, T. E., Levran, O., Batish, S. D., Hanenberg, H., & Auerbach, A. D. (2005). GST genotype may modify clinical phenotype in patients with Fanconi anaemia. British journal of haematology, 131(1), 118-122. https://doi.org/10.1111/j.1365-2141.2005.05721.x