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Increased risk for aplastic anemia and myelodysplastic syndrome in individuals lacking glutathione S‐transferase genes
Author(s) -
Sutton Joanne F.,
Stacey Michael,
Kearns William G.,
Rieg Thomas S.,
Young Neal S.,
Liu Johnson M.
Publication year - 2004
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.10479
Subject(s) - genotype , glutathione s transferase , aplastic anemia , myelodysplastic syndromes , medicine , population , genetics , gene , glutathione , gastroenterology , immunology , oncology , biology , bone marrow , enzyme , biochemistry , environmental health
Background Aplastic anemia (AA) and myelodysplastic syndrome (MDS) are marrow failure states that may be associated with chromosomal instability. An absence of the glutathione S‐transferase (GST) enzyme may genetically predispose individuals to AA or MDS. Procedure and Results To test this hypothesis, we determined the GSTM1 and GSTT1 genotypes in a total of 196 patients using multiplex PCR. The GSTT1 null genotype was found to be overrepresented in Caucasian, Asian, and Hispanic patients with either AA or MDS. We confirmed a difference in the expected frequency of the GSTM1 null genotype in Caucasian MDS patients. The double null GSTM1/GSTT1 genotype was also overrepresented in Caucasian AA and MDS patients. In our population, 26% of AA patients and 40% of MDS patients had a chromosomal abnormality identified by karyotype or FISH analyses for chromosomes 7 and 8. Patients with AA and the GSTT1 null genotype had an increased frequency of chromosomal abnormalities ( P = 0.003). Conclusion There seems to be an increased risk for AA and MDS in individuals lacking GSTT1 or both GSTM1/GSTT1 . Published 2003 Wiley‐Liss, Inc.