P2X(7) gene polymorphisms do not appear to be a susceptibility gene locus in sporadic cases of systemic lupus erythematosus

Forchap, S. L., Anandacoomarasamy, A., Wicks, J., Di Virgilio, F., Baricordi, O. R., Rubbini, M., Trotta, F., Wiley, J. and Manolios, N. (2008) P2X(7) gene polymorphisms do not appear to be a susceptibility gene locus in sporadic cases of systemic lupus erythematosus. Tissue Antigens, 72 5: 487-490. doi:10.1111/j.1399-0039.2008.01136.x


Author Forchap, S. L.
Anandacoomarasamy, A.
Wicks, J.
Di Virgilio, F.
Baricordi, O. R.
Rubbini, M.
Trotta, F.
Wiley, J.
Manolios, N.
Title P2X(7) gene polymorphisms do not appear to be a susceptibility gene locus in sporadic cases of systemic lupus erythematosus
Journal name Tissue Antigens   Check publisher's open access policy
ISSN 0001-2815
1399-0039
Publication date 2008-11
Sub-type Article (original research)
DOI 10.1111/j.1399-0039.2008.01136.x
Volume 72
Issue 5
Start page 487
End page 490
Total pages 4
Place of publication Malden, MA, United States
Publisher Wiley-Blackwell Publishing
Language eng
Formatted abstract
The P2X7 receptor is a ligand-gated cation-selective channel that mediates ATPinduced apoptosis of cells of the immune system. A loss-of-function single nucleotide polymorphism (SNP) at position 1513 (1513A/C) of the P2X7 gene has recently been identified in both healthy and chronic lymphocytic leukemia (CLL) Bcells, translating into a loss of P2X7-mediated apoptosis in these cells. This antiapoptotic effect results in increased B-cell numbers, thereby potentially contributing to the survival of B-CLL clones. It was hypothesized that prolonged cell survival may also predispose to induction of autoimmunity. The objective of this study is to analyze the role of the P2X7 receptor and its loss-of-function 1513 A/C polymorphism (SNP) in the development of systemic lupus erythematosus (SLE). DNA samples obtained from patients with sporadic SLE were analyzed for the presence of the 1513 A/C polymorphism using polymerase chain reaction (PCR) amplification and then direct sequencing. No significant difference in allele frequencies (1513 A/C polymorphism) between sporadic cases of SLE and controls was found. A loss-of-function SNP at position 1513 (1513 A/C) of the P2X7 gene does not appear to be a susceptibility gene locus for the development of sporadic SLE.
Keyword Autoimmune disease
Lupus
P2X7
Polymorphisms
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: School of Information Technology and Electrical Engineering Publications
 
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Created: Thu, 03 Sep 2009, 09:22:19 EST by Mr Andrew Martlew on behalf of ARC Centre for Complex Systems