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Published on: December 4, 2018
Evaluation of Genetic Polymorphisms of N-acetyltransferase 2 and Relation with Chronic Myeloid Leukemia
Entesar M Tebien1,2, Hiba B Khalil3, Jeremy Mills4
1Faculty of Medical Laboratory Sciences, Department oF Hematology, Al Neelain University, Sudan.
Objectives:
The N-Acetyltransferase 2 (NAT2) gene encodes a key enzyme involved in xenobiotic metabolism, which contributes to the detoxification of numerous cancer therapy-induced products. However, the NAT2 genotype/phenotype is not fully understood and few studies have reported its relationship with CML. The aim of this study was to determine whether its polymorphisms (C481T, G590A, 803A>G and 857G>A) have a role in chronic myeloid leukemia susceptibility (CML) in Sudanese population.
Methods:
We performed a case- control study. DNA from 200 CML patients and 100 controls was analyzed for the NAT2 polymorphisms using PCR-RFLP assay.
Results:
The study showed NAT2 polymorphisms 803AG are associated with CML protection by a factor of 2.3, (OR = 0.044, 95% CI: 0.020-0.095, p = 0. 000). The study indicated that the heterozygous (GA) and mutant (AA) variants of the G857A genotype also offer protection, (OR = 0.002, 95% CI: 0.002-0.019, p = 0. 000) and (OR = 0.018, 95% CI: 0.002-0.133, p = 0. 000), respectively.
Conclusion:
There was no significant difference in CML diagnosis among Sudanese cases with the 481C→T and 590G→A polymorphisms. But patients with the compound NAT2 genotypes 481CT/803 AG, 590AG/ 803AG, 590AG/ 803GG, 590AA/ 803AG and 590GG/ 803AG were found to have a reduced risk. The current study demonstrates that polymorphisms of NAT2 A803G and G857A might also act as protective factors against developing the disease.
Insights
Genetic variations in the N-Acetyltransferase 2 (NAT2) gene, specifically the A803G and G857A polymorphisms, appear to offer protection against chronic myeloid leukemia (CML) in the Sudanese population. These NAT2 gene variants may play a role in CML susceptibility.
Area of Science:
- Pharmacogenetics
- Cancer Genomics
- Metabolism and Detoxification
Background:
- The N-Acetyltransferase 2 (NAT2) gene is crucial for metabolizing xenobiotics, including cancer therapy byproducts.
- Understanding NAT2 genotype/phenotype is incomplete, with limited research on its association with chronic myeloid leukemia (CML).
Purpose of the Study:
- To investigate the role of specific NAT2 gene polymorphisms (C481T, G590A, 803A>G, and 857G>A) in chronic myeloid leukemia (CML) susceptibility within a Sudanese population.
Main Methods:
- A case-control study design was employed.
- DNA from 200 CML patients and 100 healthy controls was analyzed.
- NAT2 polymorphisms were identified using the Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) assay.
Main Results:
- NAT2 polymorphisms 803AG showed a significant association with CML protection (OR = 0.044).
- The heterozygous (GA) and mutant (AA) variants of the G857A genotype also demonstrated a protective effect against CML (OR = 0.002 and OR = 0.018, respectively).
Conclusions:
- No significant difference in CML diagnosis was observed for the 481C→T and 590G→A polymorphisms.
- Compound NAT2 genotypes (e.g., 481CT/803 AG, 590AG/803AG) were associated with a reduced risk of CML.
- The study suggests that NAT2 A803G and G857A polymorphisms may act as protective factors against CML development in the studied population.
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