GST genotype may modify clinical phenotype in patients with Fanconi anaemia.
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.
Davies
Stella M
SM
Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45329, USA. stella.davies@cchmc.org
Radloff
Gretchen A
GA
DeFor
Todd E
TE
Levran
Orna
O
Batish
Sat Dev
SD
Hanenberg
Helmut
H
Auerbach
Arleen D
AD
D005199:Fanconi Anemia / Q000175:diagnosis* / Q000235:genetics*; D005838:Genotype; D005982:Glutathione Transferase / Q000235:genetics*; D006402:Hematologic Diseases / Q000235:genetics; D006801:Humans; D010641:Phenotype; D011110:Polymorphism, Genetic; D018709:Statistics, Nonparametric; D013997:Time Factors
D005982:Glutathione Transferase