Role of TRAF1 gene polymorphisms in susceptibility to Acute Lymphoblastic Leukemia in Saudi patients

Acute Lymphoblastic Leukemia (ALL) is a genetic malignancy characterized by the uncontrolled proliferation of hematopoietic precursor cells and evasion of immune surveillance. This study investigates the association between TRAF1 gene polymorphisms and the risk of developing ALL. Understanding the role of single nucleotide polymorphisms (SNPs) in the TRAF1 gene, which has been previously implicated in various immune-related disorders, may provide valuable insights into the molecular mechanisms of ALL and help identify potential therapeutic targets. A total of 265 subjects were recruited for this study, comprising 150 ALL patients and 115 healthy controls. Genotyping was performed using TaqMan PCR, focusing on four TRAF1 SNPs: rs2239657G/A, rs2416804G/C, rs7021049G/T, and rs3761847G/A. The minor allele frequencies and genotype distributions were compared between groups, with relative risks and statistical differences evaluated. Additionally, TRAF1 mRNA expression levels were assessed in both ALL patients and healthy individuals using qRT-PCR. The results demonstrated a significant association between the TRAF1 rs2239657G/A polymorphism and an increased risk of ALL, while the rs2416804G/C polymorphism was associated with a significantly reduced risk. Notably, TRAF1 was overexpressed in ALL patients, indicating its potential role in the pathogenesis of ALL. This overexpression suggests that TRAF1 may contribute to the interaction between inflammation and oncogenesis, providing new insights into the disease’s progression and highlighting TRAF1 as a possible biomarker for therapeutic intervention.