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Updated: Aug 15, 2026

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Published on: May 10, 2024
GST genotype may modify clinical phenotype in patients with Fanconi anaemia
Stella M Davies1, Gretchen A Radloff, Todd E DeFor
1Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45329, USA. stella.davies@cchmc.org
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.
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