RGD Reference Report - Association of glutathione S-transferase, EPHX, and p53 codon 72 gene polymorphisms with adult acute myeloid leukemia. - Rat Genome Database

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Association of glutathione S-transferase, EPHX, and p53 codon 72 gene polymorphisms with adult acute myeloid leukemia.

Authors: Chauhan, PS  Ihsan, R  Yadav, DS  Mishra, AK  Bhushan, B  Soni, A  Kaushal, M  Devi, TR  Saluja, S  Gupta, DK  Mittal, V  Saxena, S  Kapur, S 
Citation: Chauhan PS, etal., DNA Cell Biol. 2011 Jan;30(1):39-46. doi: 10.1089/dna.2010.1092. Epub 2010 Aug 23.
RGD ID: 11252115
Pubmed: PMID:20731606   (View Abstract at PubMed)
DOI: DOI:10.1089/dna.2010.1092   (Journal Full-text)

Polymorphisms in genes encoding detoxification enzymes have been suggested as susceptibility factors for many solid tumors. However, their association with hematological malignancies is controversial. A case-control study was done to determine the association between glutathione S-transferase M1 (GSTM1), GSTT1, GSTP1, EPHX1, and p53 codon 72 polymorphisms as risk factors in 120 adult acute myeloid leukemia (AML) cases and 202 healthy controls by polymerase chain reaction-restriction fragment length polymorphism techniques. Data were analyzed using chi(2) and conditional logistic regression model. None of the polymorphisms studied alone was associated with increased risk for AML. However, the frequency of GSTT1 null genotype was higher among controls (28.7%) than AML cases (21.6%), which showed a protective effect of the null genotype (odds ratio = 0.58, 95% confidence interval: 0.33-1.05, p = 0.07). In a combined analysis, both EPHX1 (His113His) and GSTP1 (Ile/Val) genes imparted a fourfold risk for adult AML but did not reach statistical significance (odds ratio = 4.22, 95% confidence interval: 0.992-17.99, p = 0.05). These findings suggest that the etiology of adult AML cannot be explained by polymorphism at a single locus, perhaps because of complexity involved in the metabolism of diverse xenobiotic compounds, and therefore, multiple gene-gene interactions should be investigated to predict the risk of AML.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
acute myeloid leukemia no_associationIAGP 11252115DNA:polymorphismRGD 
acute myeloid leukemia no_associationISOEPHX1 (Homo sapiens)11252115; 11252115DNA:polymorphismRGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Abnormal leukocyte morphology no_associationIAGP 11252115DNA:polymorphismRGD 
Objects Annotated

Genes (Rattus norvegicus)
Ephx1  (epoxide hydrolase 1)

Genes (Mus musculus)
Ephx1  (epoxide hydrolase 1, microsomal)

Genes (Homo sapiens)
EPHX1  (epoxide hydrolase 1)


Additional Information