Article

GST genotype may modify clinical phenotype in patients with Fanconi anaemia.

Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45329, USA.
British Journal of Haematology (impact factor: 4.94). 10/2005; 131(1):118-22. DOI:10.1111/j.1365-2141.2005.05721.x
Source: PubMed

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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Keywords

356 FA patients
 
bone marrow failure
 
Cellular sensitivity
 
clinical manifestations
 
complementation group FA-C
 
Fanconi anaemia
 
genetic modifiers
 
glutathione s-transferase genes
 
International Fanconi Anaemia Registry
 
median age 3.0 years
 
median chromosomal breaks 11.1