International Journal of Hematology

DOI: 10.1007/s12185-018-2464-9 Pages: 246-253

Association between OGG1 S326C CC genotype and elevated relapse risk in acute myeloid leukemia

1. Gunma University, Graduate School of Health Sciences

2. Gunma University Graduate School of Medicine, Department of Virology and Preventive Medicine

3. Gunma University, Laboratory of Molecular Genetics, Institute for Molecular and Cellular Regulation

4. Saiseikai Maebashi Hospital, Leukemia Research Center

5. Gunma University Hospital, Oncology Center

6. Gunma University Graduate School of Medicine, Department of Medicine and Clinical Science

7. Gunma University Hospital, Division of Blood Transfusion Service

Correspondence to:
Takayuki Saitoh
Tel: +81-27-220-8938



Recent studies have shown that tumors of relapsed acute myeloid leukemia (AML) present additional genetic mutations compared to the primary tumors. The base excision repair (BER) pathway corrects oxidatively damaged mutagenic bases and plays an important role in maintaining genetic stability. The purpose of the present study was to investigate the relationship between BER functional polymorphisms and AML relapse. We focused on five major polymorphisms: OGG1 S326C, MUTYH Q324H, APE1 D148E, XRCC1 R194W, and XRCC1 R399Q. Ninety-four adults with AML who achieved first complete remission were recruited. Genotyping was performed with the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The OGG1 S326C CC genotype (associated with lower OGG1 activity) was observed more frequently in patients with AML relapse [28.9 vs. 8.9%, odds ratio (OR) = 4.10, 95% confidence interval (CI) = 1.35–12.70, P = 0.01]. Patients with the CC genotype exhibited shorter relapse-free survival (RFS). Moreover, the TCGA database suggested that low OGG1 expression in AML cells is associated with a higher frequency of mutations. The present findings suggest that the OGG1 S326C polymorphism increased the probability of AML relapse and may be useful as a prognostic factor for AML relapse risk.

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