Faculty of Medical Laboratory Sciences, Department oF Hematology, Al Neelain University, Sudan.
Faculty of Applied Medical Sciences, Clinical Laboratory Sciences, Shaqra University, Saudi Arabia.
Asian Pac J Cancer Prev. 2020 Dec 1;21(12):3711-3717. doi: 10.31557/APJCP.2020.21.12.3711.
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.
We performed a case- control study. DNA from 200 CML patients and 100 controls was analyzed for the NAT2 polymorphisms using PCR-RFLP assay.
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.
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.
N-乙酰基转移酶 2（NAT2）基因编码一种参与外源生物代谢的关键酶，有助于解毒许多癌症治疗诱导的产物。然而，NAT2 基因型/表型尚未完全阐明，并且很少有研究报道其与 CML 的关系。本研究旨在确定其多态性（C481T、G590A、803A>G 和 857G>A）是否在苏丹人群中与慢性髓性白血病（CML）易感性有关。
我们进行了病例对照研究。使用 PCR-RFLP 检测法分析 200 例 CML 患者和 100 例对照的 NAT2 多态性。
该研究表明，NAT2 多态性 803AG 与 CML 保护有关，其保护因素为 2.3（OR=0.044，95%CI：0.020-0.095，p=0.000）。研究表明，G857A 基因型的杂合子（GA）和突变子（AA）变体也提供了保护，（OR=0.002，95%CI：0.002-0.019，p=0.000）和（OR=0.018，95%CI：0.002-0.133，p=0.000）。
苏丹 CML 患者的 481C→T 和 590G→A 多态性在诊断上没有显著差异。但是，具有复合 NAT2 基因型 481CT/803AG、590AG/803AG、590AG/803GG、590AA/803AG 和 590GG/803AG 的患者被发现患病风险降低。本研究表明，NAT2 A803G 和 G857A 多态性也可能作为预防疾病发生的保护因素。
