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

Bax gene G(-248)A promoter polymorphism is associated with increased lifespan of the neutrophils of patients with osteomyelitis

“…Our findings regarding the allelic frequency of this polymorphism are in agreement with previous reports. Thus, the A allele frequency of the G(-248)A bax promoter polymorphism found in our control white population of 220 Blood Bank donors was similar to that reported by Starcynski et al 43 in 135 British white volunteers (8.0%), and it was a little higher than that reported by Saxena et al 18 in 25 healthy Canadians (3%), although they did not report their racial background. Unlike other cytokine polymorphisms, such as the IL-1␣ (-889) associated with a younger age at diagnosis of OM, 2 or the TLR4 (Asp299Gly) associated with Gram-negative bacteria and hematogenous OM, 4 carriers of the A allele of the G(-248)A bax promoter polymorphism did not show differences in their age, gender, source of infection, microorganism involved, or condition predisposing to OM when compared with noncarriers of the allele.…”

“…17 The promoter region with G-to-A SNP consists of potential binding sites for c-Myb, and single nucleotide substitutions in this region may affect c-myb-induced transcriptional activation. 18,47 The G(-248)A bax promoter polymorphism is associated with disease progression, treatment resistance, and shorter survival in patients with chronic lymphocytic leukemia and with decreased cell Bax expression. 18,43,47 It is known that changes in the 5=-untranslated region sequence can inhibit initiation of translation and that the altered expression of Bax protein more likely involves a posttranscriptional mechanism.…”

“…18,47 The G(-248)A bax promoter polymorphism is associated with disease progression, treatment resistance, and shorter survival in patients with chronic lymphocytic leukemia and with decreased cell Bax expression. 18,43,47 It is known that changes in the 5=-untranslated region sequence can inhibit initiation of translation and that the altered expression of Bax protein more likely involves a posttranscriptional mechanism. 18 Other genetic variants in the bax gene have been found in B-cell lymphomas and several cell lines of human hematopoietic malignancies.…”

“…18,43,47 It is known that changes in the 5=-untranslated region sequence can inhibit initiation of translation and that the altered expression of Bax protein more likely involves a posttranscriptional mechanism. 18 Other genetic variants in the bax gene have been found in B-cell lymphomas and several cell lines of human hematopoietic malignancies. 16,48,49 However, SNPs of the bax gene are rare, and the G(-248)A promoter SNP, studied in the present work, is the most important among them.…”

“…16,17 Recently, a novel single nucleotide polymorphism (SNP), G(-248)A, in the 5=-untranslated region of the bax gene was found in patients with chronic lymphocytic leukemia, a malignancy characterized by accumulation of lymphocytes resulting from failed apoptosis. 18,19 Delayed neutrophil apoptosis is also associated with various proinflammatory diseases, including systemic inflammatory response syndrome, ischemia-reperfusion injury, and adult respiratory distress syndrome. 20 -23 Increased levels of inflammatory cytokines have been reported in serum and surgically obtained bone fragments of humans 24,25 and mice with OM.…”