NGHIÊN CỨU ĐA HÌNH RS1800566 GENE NQO1 VÀ BIỂU HIỆN GENE ASCL1 Ở BỆNH NHÂN NHIỄM ĐỘC TRINITROTOLUEN NGHỀ NGHIỆP

Abstract

Objectives: To investigate the rs1800566 polymorphism in the NQO1 gene and evaluate  ASCL1 gene expression levels in patients with occupational trinitrotoluene (TNT) poisoning. Methods: A case-control and descriptive study was conducted on 200 workers occupationally exposed to trinitrotoluene (TNT), including 100 patients with TNT poisoning and 100 non-poisoned controls from December 2023 to December 2025. The rs1800566 polymorphism of the NQO1 gene was determined using the PCR-RFLP technique, and ASCL1 gene expression levels were relatively quantified by qRT-PCR. Results: The frequencies of AA/AG/GG genotypes in the researched group were 15%, 46%, and 39%, respectively, compared to 25%, 53%, and 22% in the control group. The allele frequencies of A/G were 76/124 in the researched group and 103/97 in controls. The GG genotype was more prevalent in the researched group (p < 0.05). The GG genotype was associated with a higher risk of TNT poisoning compared to the AA genotype (OR = 2.95; p < 0.01), and the G allele was associated with a higher risk compared to the A allele (OR = 1.73; p < 0.01). ASCL1 gene expression levels were lower in the researched group than in the control group, with median values of 0.44 and 0.93, respectively (p < 0.001). Conclusion:The NQO1 rs1800566 polymorphism, particularly the GG genotype and G allele, is associated with an increased risk of occupational TNT poisoning. ASCL1 gene expression is significantly reduced in patients with TNT poisoning compared to the control group.