title: GST genotype may modify clinical phenotype in patients with Fanconi anaemia.
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.
authors.affiliation: Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45329, USA. stella.davies@cchmc.org
authors.forename: Stella M
authors.initials: SM
authors.lastname: Davies
authors.forename: Gretchen A
authors.initials: GA
authors.lastname: Radloff
authors.forename: Todd E
authors.initials: TE
authors.lastname: DeFor
authors.forename: Orna
authors.initials: O
authors.lastname: Levran
authors.forename: Sat Dev
authors.initials: SD
authors.lastname: Batish
authors.forename: Helmut
authors.initials: H
authors.lastname: Hanenberg
authors.forename: Arleen D
authors.initials: AD
authors.lastname: Auerbach
mesh_terms: 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
chemical_list: D005982:Glutathione Transferase