الفهرس 
Impact of caspase 9 promoter polymorphism on the susceptibility of acute myeloid leukemia
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Abstract
Background : Abnormal apoptosis is one of the hallmarks of cancers including acute myeloid leukemia (AML), as it plays a pivotal role in precisely maintaining self-renewal, proliferation and differentiation properties of hematopoietic stem cells (HSCs). Caspase 9 (CASP9), an initiator caspase activated by mitochondrial-mediated apoptotic pathway (intrinsic pathway), triggers cascade of effector caspases and executes apoptosis. Functional SNPs in CASP 9 might influence the gene expression leading to altered apoptosis which confer the risk to AML. The aim of the work is to study the incidence of caspase 9 promotor single nucleotide polymorphisms and to assess the impact of these genetic polymorphisms on the susceptibility and response to therapy of AML. Participants and methods: Sixty patients with AML as well as forty healthy control subjects are included in this study. Caspase 9 1263 rs4645978 A/G and rs4645981 C/T genotypes were determined by PCR-RFLP. Results: Our study revealed that Caspase 9 rs4645981 C/T gene polymorphism is associated with increased risk of developing AML and poor disease outcome (p=0.006, <0.001, OR=3.644, 26 and 95%CI=1.39-9.528, 6.5-103.5 respectively), while Caspase 9 rs4645978 A/G showed no statistical significant difference between AML patients and the control group regarding the risk of developing AML or disease outcome (p=0.301, 0.573 respectively). Moreover, the combined gene polymorphisms are associated with about 7.41 fold and 7.1 fold increased risk of developing AML and poor outcome respectively