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

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16 Scopus citations


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
Issue number1
StatePublished - Oct 2005


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


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