Association of a novel single nucleotide polymorphism, G(-248)A, in the 5'-UTR of BAX gene in chronic lymphocytic leukemia with disease progression and treatment resistance
In B-cell chronic lymphocytic leukemia (CLL) a high Bcl-2/Bax ratio contributes to death defiance. We sought to identify any genetic changes in the BAX as a possible mechanism for its altered expression in CLL. The BAX gene from the RL cell line and B-cells from 34 CLL patients and 25 controls were sequenced. A novel heterozygous G(−248)A polymorphism in the 5′-UTR was present in 69% of stage I–IV patients and 5.5% of stage 0 patients, and in 4.0% of controls. It was associated with reduced protein expression ( P =0.049), progression beyond Rai stage 0 ( P =0.00018) and failure to achieve complete response ( P =0.038).