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p53 pathway gene single nucleotide polymorphisms and chronic lymphocytic leukemia

p53 pathway gene single nucleotide polymorphisms and chronic lymphocytic leukemia
p53 pathway gene single nucleotide polymorphisms and chronic lymphocytic leukemia
The p53 pathway plays a critical role in chronic lymphocytic leukemia (CLL). The association between the single-nucleotide polymorphism (SNPs) within the p53 gene (R72P) and its downstream target/regulators, BAX (G125A) and MDM2 (SNP309), and clinical parameters/prognostic markers was investigated in 83 CLL patients. Although the p53 R72P SNPs and MDM2 SNP309 did not associate with any of the parameters studied, the BAX G125A SNPs was associated with a more advanced Binet stage at diagnosis, supporting a potential role for this variant in CLL disease progression. In reporter assays, however, the BAX 5' untranslated region G125A SNPs surprisingly caused a 1.8-fold increase in basal promoter activity and did not alter the ability of p53 to transactivate the promoter. Further studies are required to understand the role of SNPs in the p53 pathway in CLL.
bax gene, gene, lymphocytic-leukemia, promoter region, cd38 expression, cll, polymorphisms, mdm2, disease, mdm2 oncogene, leukemia, binet, single, p53, p53 gene, promoter, time, variable-region mutations, single nucleotide polymorphism, zap-70 expression, pathway, patient, lung-cancer, diagnosis, survival, p53 pathway, codon-72, region, variant, disease progression
0165-4608
36-44
Lahiri, Onoshua
27d9d564-9671-46bf-ba02-b2328c4a8a1e
Harris, Scott
19ea097b-df15-4f0f-be19-8ac42c190028
Packham, Graham
fdabe56f-2c58-469c-aadf-38878f233394
Howell, Melanie
7a13fcd5-86fa-421a-b950-4ef1fb47eb00
Lahiri, Onoshua
27d9d564-9671-46bf-ba02-b2328c4a8a1e
Harris, Scott
19ea097b-df15-4f0f-be19-8ac42c190028
Packham, Graham
fdabe56f-2c58-469c-aadf-38878f233394
Howell, Melanie
7a13fcd5-86fa-421a-b950-4ef1fb47eb00

Lahiri, Onoshua, Harris, Scott, Packham, Graham and Howell, Melanie (2007) p53 pathway gene single nucleotide polymorphisms and chronic lymphocytic leukemia. Cancer Genetics and Cytogenetics, 179 (1), 36-44. (doi:10.1016/j.cancergencyto.2007.07.013).

Record type: Article

Abstract

The p53 pathway plays a critical role in chronic lymphocytic leukemia (CLL). The association between the single-nucleotide polymorphism (SNPs) within the p53 gene (R72P) and its downstream target/regulators, BAX (G125A) and MDM2 (SNP309), and clinical parameters/prognostic markers was investigated in 83 CLL patients. Although the p53 R72P SNPs and MDM2 SNP309 did not associate with any of the parameters studied, the BAX G125A SNPs was associated with a more advanced Binet stage at diagnosis, supporting a potential role for this variant in CLL disease progression. In reporter assays, however, the BAX 5' untranslated region G125A SNPs surprisingly caused a 1.8-fold increase in basal promoter activity and did not alter the ability of p53 to transactivate the promoter. Further studies are required to understand the role of SNPs in the p53 pathway in CLL.

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More information

Published date: November 2007
Keywords: bax gene, gene, lymphocytic-leukemia, promoter region, cd38 expression, cll, polymorphisms, mdm2, disease, mdm2 oncogene, leukemia, binet, single, p53, p53 gene, promoter, time, variable-region mutations, single nucleotide polymorphism, zap-70 expression, pathway, patient, lung-cancer, diagnosis, survival, p53 pathway, codon-72, region, variant, disease progression

Identifiers

Local EPrints ID: 62823
URI: http://eprints.soton.ac.uk/id/eprint/62823
ISSN: 0165-4608
PURE UUID: 201ef3bb-15a1-4566-a992-60d9c12f654e
ORCID for Graham Packham: ORCID iD orcid.org/0000-0002-9232-5691

Catalogue record

Date deposited: 04 Sep 2008
Last modified: 23 Jul 2022 01:46

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Contributors

Author: Onoshua Lahiri
Author: Scott Harris
Author: Graham Packham ORCID iD
Author: Melanie Howell

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