{"title":"A case-control study in NAT2 gene polymorphism studies in patients diagnosed with acute myeloid leukemia.","authors":"Abdullah Farasani","doi":"10.18388/abp.2020_6235","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>Acute myeloid leukemia (AML) is a clinically defined heterogeneous disease whose pathophysiology is currently unknown. The association of NAT2 acetylation profiles with human cancer risks, particularly with AML, was investigated in molecular epidemiological studies. Additionally, the NAT2 gene was carried out with acute lymphoid leukemia and other cancers.</p><p><strong>Aim: </strong>In this case-control study, C481T (rs1799929) and G857A (rs1799931) polymorphism studies were investigated in diagnosed AML patients in the Saudi population.</p><p><strong>Methods: </strong>This case-control study included 100 AML patients and 100 control subjects recruited in Saudi Arabia. The C481T and G857A polymorphisms were genotyped using specific primers and restriction enzymes. Statistical analysis was performed on the AML patients and controls using chi-square tests, genotyping, and allele frequencies (odds ratios, 95% of confidence intervals, and P-values).</p><p><strong>Results: </strong>Hardy Weinberg Equilibrium was determined to be both within and outside of the G857A and C481T polymorphisms. The allele and genotyping frequencies in AML and control subjects were analyzed, and the results corroborated the unfavorable connection with C481T (CC vs CT+TT; OR-1.12; (95% CIs: 0.64-1.96); P=0.67 and T vs C; OR-0.89; (95% CIs: 0.59-1.35) and P=0.60) and G857A polymorphisms (GG vs GA+AA; OR-1.50; (95% CIs: 0.83-2.71); P=0.17 and A vs G; OR-0.71; (95%CIs: 0.43-1.19) and P=0.19) in the NAT2 gene.</p><p><strong>Conclusion: </strong>The study results revealed a negative correlation as well as a protective factor for AML with the C481T and G857A polymorphisms in the NAT2 gene.</p>","PeriodicalId":6984,"journal":{"name":"Acta biochimica Polonica","volume":" ","pages":"503-507"},"PeriodicalIF":1.4000,"publicationDate":"2023-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Acta biochimica Polonica","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.18388/abp.2020_6235","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"BIOCHEMISTRY & MOLECULAR BIOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Introduction: Acute myeloid leukemia (AML) is a clinically defined heterogeneous disease whose pathophysiology is currently unknown. The association of NAT2 acetylation profiles with human cancer risks, particularly with AML, was investigated in molecular epidemiological studies. Additionally, the NAT2 gene was carried out with acute lymphoid leukemia and other cancers.
Aim: In this case-control study, C481T (rs1799929) and G857A (rs1799931) polymorphism studies were investigated in diagnosed AML patients in the Saudi population.
Methods: This case-control study included 100 AML patients and 100 control subjects recruited in Saudi Arabia. The C481T and G857A polymorphisms were genotyped using specific primers and restriction enzymes. Statistical analysis was performed on the AML patients and controls using chi-square tests, genotyping, and allele frequencies (odds ratios, 95% of confidence intervals, and P-values).
Results: Hardy Weinberg Equilibrium was determined to be both within and outside of the G857A and C481T polymorphisms. The allele and genotyping frequencies in AML and control subjects were analyzed, and the results corroborated the unfavorable connection with C481T (CC vs CT+TT; OR-1.12; (95% CIs: 0.64-1.96); P=0.67 and T vs C; OR-0.89; (95% CIs: 0.59-1.35) and P=0.60) and G857A polymorphisms (GG vs GA+AA; OR-1.50; (95% CIs: 0.83-2.71); P=0.17 and A vs G; OR-0.71; (95%CIs: 0.43-1.19) and P=0.19) in the NAT2 gene.
Conclusion: The study results revealed a negative correlation as well as a protective factor for AML with the C481T and G857A polymorphisms in the NAT2 gene.
引言:急性髓细胞白血病(AML)是一种临床定义的异质性疾病,其病理生理学目前尚不清楚。在分子流行病学研究中调查了NAT2乙酰化特征与人类癌症风险,特别是与AML的关联。此外,NAT2基因在急性淋巴细胞白血病和其他癌症中进行了研究。目的:在本病例对照研究中,对沙特人群中诊断为AML的患者进行C481T(rs1799929)和G857A(rs1799931)多态性研究。方法:本病例对照研究包括在沙特阿拉伯招募的100名AML患者和100名对照受试者。使用特异性引物和限制性内切酶对C481T和G857A多态性进行基因分型。使用卡方检验、基因分型和等位基因频率(优势比、95%置信区间和P值)对AML患者和对照组进行统计分析。结果:Hardy-Weinberg平衡被确定为G857A和C481T多态性内外。分析了AML和对照受试者的等位基因和基因分型频率,结果证实了与C481T的不利联系(CC vs CT+TT;OR-1.12;(95%CI:0.64-1.96);P=0.67,T与C比较;-0.89;(95%置信区间:0.59-1.35)和P=0.60)和G857A多态性(GG vs GA+AA;OR-1.50;(95%置信度:0.83-2.71);P=0.17,A与G比较;-0.71;(95%可信区间:0.43-1.19)和P=0.019)。结论:NAT2基因C481T和G857A多态性与AML呈负相关,是AML的保护因子。
期刊介绍:
Acta Biochimica Polonica is a journal covering enzymology and metabolism, membranes and bioenergetics, gene structure and expression, protein, nucleic acid and carbohydrate structure and metabolism.