Abdalhabib Ezeldine K, Alzahrani Badr, Alanazi Fehaid, Algarni Abdulrahman, Ibrahim Ibrahim Khider, Mohamed Hozifa A, Hamali Hassan A, Mobarki Abdullah A, Dobie Gasim, Saboor Muhammad
Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, Jouf University, Al-Qurayyat, Saudi Arabia.
Department of Medical Laboratory Technology, College of Applied Medical Sciences, Northern Borders University, Arar, Saudi Arabia.
Pharmgenomics Pers Med. 2022 Mar 15;15:227-234. doi: 10.2147/PGPM.S356302. eCollection 2022.
Glutathione S-transferases (GSTT1 and GSTM1) detoxify various endogenous and exogenous compounds and provide cytoprotective role against reactive species. This study aimed to assess the frequency of , and polymorphisms in newly diagnosed Sudanese adult patients with acute lymphoblastic leukemia (ALL) and to evaluate the association of these polymorphisms with age, gender and type of ALL.
This case-control study included 128 adult Sudanese, untreated newly diagnosed patients with ALL, aged 18 to 74 years and 128 age-gender matched healthy controls. Deletional polymorphisms of and genes were genotyped through a multiplex polymerase chain reaction (PCR) assay using β-globin gene as an internal positive control.
The genotypic frequency of null polymorphism was 22.7% in cases and 14.8% in controls (OR = 1.68, P = 0.111). Statistically significant differences were noted in the frequencies of null polymorphism in cases and controls (OR = 3.7, P = <0.001). Combined null and null gene polymorphisms showed statistically significant difference in patients with ALL as compared to controls (OR = 6.5, CI 95% = 1.42-29.74, P < 0.001).
Irrespective of age at diagnosis, gender, and phenotype of ALL, GSTM1 null polymorphism either alone or in combination with GSTT1 null polymorphism poses significantly increased risk of developing ALL in adults.
谷胱甘肽S-转移酶（GSTT1和GSTM1）可使多种内源性和外源性化合物解毒，并对活性物质起到细胞保护作用。本研究旨在评估新诊断的苏丹成年急性淋巴细胞白血病（ALL）患者中GSTT1和GSTM1基因多态性的频率，并评估这些多态性与年龄、性别及ALL类型之间的关联。
本病例对照研究纳入了128名年龄在18至74岁之间、未经治疗的新诊断苏丹成年ALL患者以及128名年龄和性别匹配的健康对照。采用多重聚合酶链反应（PCR）检测法，以β-珠蛋白基因作为内部阳性对照，对GSTT1和GSTM1基因的缺失多态性进行基因分型。
病例组中GSTT1基因缺失多态性的基因型频率为22.7%，对照组为14.8%（比值比=1.68，P=0.111）。病例组和对照组中GSTM1基因缺失多态性的频率存在统计学显著差异（比值比=3.7，P<0.001）。与对照组相比，ALL患者中GSTT1基因缺失和GSTM1基因缺失的联合多态性具有统计学显著差异（比值比=6.5，95%置信区间=1.42-29.74，P<0.001）。
无论诊断时的年龄、性别及ALL的表型如何，GSTM1基因缺失多态性单独或与GSTT1基因缺失多态性联合均会显著增加成年人患ALL的风险。
