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

doi:10.1111/j.1365-2141.2005.05721.x

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

CTSI Biostatistics

Research output: Contribution to journal › Article › peer-review

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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.

Original language	English (US)
Pages (from-to)	118-122
Number of pages	5
Journal	British journal of haematology
Volume	131
Issue number	1
DOIs	https://doi.org/10.1111/j.1365-2141.2005.05721.x
State	Published - Oct 2005

Keywords

Bone marrow failure
Fanconi anaemia
GSTM1
GSTP1
GSTT1

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10.1111/j.1365-2141.2005.05721.x

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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.",

keywords = "Bone marrow failure, Fanconi anaemia, GSTM1, GSTP1, GSTT1",

author = "Davies, {Stella M.} and Radloff, {Gretchen A.} and DeFor, {Todd E.} and Orna Levran and Batish, {Sat Dev} and Helmut Hanenberg and Auerbach, {Arleen D.}",

year = "2005",

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doi = "10.1111/j.1365-2141.2005.05721.x",

language = "English (US)",

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T1 - GST genotype may modify clinical phenotype in patients with Fanconi anaemia

AU - Davies, Stella M.

AU - Radloff, Gretchen A.

AU - DeFor, Todd E.

AU - Levran, Orna

AU - Batish, Sat Dev

AU - Hanenberg, Helmut

AU - Auerbach, Arleen D.

PY - 2005/10

Y1 - 2005/10

N2 - 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.

AB - 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.

KW - Bone marrow failure

KW - Fanconi anaemia

KW - GSTM1

KW - GSTP1

KW - GSTT1

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JO - British journal of haematology

JF - British journal of haematology

IS - 1

ER -

GST genotype may modify clinical phenotype in patients with Fanconi anaemia

Abstract

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