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Published on: October 11, 2018
CYP2B6 gene single nucleotide polymorphisms and leukemia susceptibility
Zhong-hai Yuan1, Qian Liu, Ying Zhang
1Department of Hematology, Peking University First Hospital, Beijing, China.
Annals of Hematology
|September 30, 2010
Summary
The CYP2B6 516G>T single nucleotide polymorphism (SNP) T allele is associated with an increased risk of acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL). This genetic variation was not linked to myelodysplastic syndrome (MDS) or specific subtypes like B-ALL.
Area of Science:
- Genetics
- Oncology
- Pharmacogenomics
Background:
- Cytochrome P450 family 2 subfamily B member 6 (CYP2B6) is crucial for metabolizing various compounds, including carcinogens.
- The CYP2B6 516G>T single nucleotide polymorphism (SNP) can alter enzyme activity, potentially impacting carcinogen detoxification and cancer risk.
- Understanding the role of CYP2B6 genetic variations in hematological malignancies is important for risk assessment and personalized medicine.
Purpose of the Study:
- To investigate the association between the CYP2B6 516G>T SNP (genotype and allele frequencies) and the risk of acute leukemia and myelodysplastic syndrome (MDS).
- To analyze the correlation of this SNP with specific subtypes of acute leukemia, including AML and ALL, and their genetic abnormalities.
Main Methods:
- Genotyping for the CYP2B6 516G>T SNP was performed using allele-specific primers PCR, confirmed by gel electrophoresis and sequencing.
- Karyotype analysis and multiplex reverse transcription-polymerase chain reaction (RT-PCR) were used to identify genetic abnormalities in leukemia cases.
- Case-control study involving 300 patients (164 AML, 96 ALL, 40 MDS) and 348 controls (umbilical cord blood).
Main Results:
- The GT and GT+TT genotypes of the CYP2B6 516G>T SNP were significantly more frequent in patients with ALL and AML compared to controls.
- The T allele frequency of the CYP2B6 516G>T SNP was also significantly higher in AML and ALL cases than in controls.
- Specific subtypes, including AML with genetic abnormalities, AML-NOS, acute monoblastic/monocytic leukemia, and T-ALL, showed a higher prevalence of the T allele and variant genotypes. Myelodysplastic syndrome (MDS) showed no association with the SNP.
Conclusions:
- The T allele of the CYP2B6 516G>T SNP may be a risk factor for the pathogenesis of a majority of acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML).
- This genetic variation does not appear to be associated with B-ALL or leukemia with or without chromosomal abnormalities.
- The findings highlight the potential role of CYP2B6 genetic polymorphisms in leukemia susceptibility, warranting further investigation.
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