The P2X7 Receptor Gene A1513C Polymorphism Does Not Contribute to Risk of Familial or Sporadic Chronic Lymphocytic Leukemia

The P2X7 receptor, a plasma membrane ATP-gated ion channel that plays a role in lymphocyte apoptosis, has been suggested to be involved in the development of chronic lymphocytic leukemia (CLL). P2X7 is polymorphic with 1513A and 1513C alleles encoding fully active and nonfunctional proteins, respect...

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Published in:Cancer epidemiology, biomarkers & prevention biomarkers & prevention, 2004-06, Vol.13 (6), p.1065-1067
Main Authors: SELLICK, Gabrielle S, RUDD, Matthew, EVE, Paul, ALLINSON, Ruth, MATUTES, Estella, CATOVSKY, Daniel, HOULSTON, Richard S
Format: Article
Language:English
Subjects:
Aged
Biological and medical sciences
Case-Control Studies
chronic lymphocytic leukemia
Female
Gene Frequency
Genetic Predisposition to Disease - epidemiology
Genotype
Hematologic and hematopoietic diseases
Humans
Leukemia, Lymphocytic, Chronic, B-Cell - epidemiology
Leukemia, Lymphocytic, Chronic, B-Cell - genetics
Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis
Logistic Models
Male
Medical sciences
Meta-Analysis as Topic
Middle Aged
P2X7
polymorphism
Polymorphism, Genetic
Receptors, Purinergic P2 - genetics
Receptors, Purinergic P2X
United Kingdom - epidemiology
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Summary:The P2X7 receptor, a plasma membrane ATP-gated ion channel that plays a role in lymphocyte apoptosis, has been suggested to be involved in the development of chronic lymphocytic leukemia (CLL). P2X7 is polymorphic with 1513A and 1513C alleles encoding fully active and nonfunctional proteins, respectively. We evaluated the significance of the P2X7 -A1513C polymorphism on CLL risk by genotyping 424 patients and 428 healthy controls. To empower detection of an association, we included in our analysis 106 familial cases. Allele frequencies were identical in cases and controls irrespective of whether cases were familial or sporadic (frequency of the C allele was 0.17 and 0.17, respectively). The odds ratio of CLL associated with the C allele was 1.03 (95% confidence interval: 0.80-1.31). A meta-analysis of this study and five other smaller published studies provides no evidence of relationship between this P2X7 polymorphism and risk of CLL (odds ratio = 0.99, 95% confidence interval: 0.74-1.32).
ISSN:1055-9965
1538-7755
DOI:10.1158/1055-9965.1065.13.6