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Article

P2X7 gene polymorphisms do not appear to be a susceptibility gene locus in sporadic cases of systemic lupus erythematosus.

Tissue antigens - 1 Nov 2008

Forchap S L, Anandacoomarasamy A, Wicks J, Di Virgilio F, Baricordi O R, Rubini M, Trotta F, Wiley J, Manolios N

Abstract excerpt

The P2X(7) receptor is a ligand-gated cation-selective channel that mediates ATP-induced apoptosis of cells of the immune system. A loss-of-function single nucleotide polymorphism (SNP) at position 1513 (1513 A-->C) of the P2X(7) gene has recently been identified in both healthy and chronic lymphocytic leukemia (CLL) B-cells, translating into a loss of P2X(7)-mediated apoptosis in these cells. This antiapoptotic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lupus Erythematosus, Systemic

Share to Polymorphism, Single Nucleotide

Share to Receptors, Purinergic P2

Share to Receptors, Purinergic P2X7

Source

Identifiers

PMID: 18937793
DOI: 10.1111/j.1399-0039.2008.01136.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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P2X7 gene polymorphisms do not appear to be a susceptibility gene locus in sporadic cases of systemic lupus erythematosus.PMID 18937793Read ↗

The P2X7 receptor gene A1513C polymorphism does not contribute to risk of familial or sporadic chronic lymphocytic leukemia.Semantic proximity Read ↗

Expression and function of the P2X(7) purinergic receptor in patients with systemic lupus erythematosus and rheumatoid arthritis.Semantic proximity Read ↗

A loss-of-function polymorphic mutation in the cytolytic P2X7 receptor gene and chronic lymphocytic leukaemia: a molecular study.Semantic proximity Read ↗

1513A/C polymorphism in the P2X7 receptor gene in chronic lymphocytic leukemia: absence of correlation with clinical outcome.Semantic proximity Read ↗

Association of P2X7R gene polymorphisms with systemic lupus erythematosus in a Chinese population.Semantic proximity Read ↗

A Glu-496 to Ala Polymorphism Leads to Loss of Function of the Human P2X7 ReceptorSemantic proximity Read ↗

Polymorphism in the P2X7 receptor gene and survival in chronic lymphocytic leukaemia.Semantic proximity Read ↗

The P2X7 receptor gene polymorphism 1513 A-->C has no effect on clinical prognostic markers, in vitro sensitivity to fludarabine, Bcl-2 family protein expression or survival in B-cell chronic lymphocytic leukaemia.Semantic proximity Read ↗

A 5' intronic splice site polymorphism leads to a null allele of the P2X7 gene in 1-2% of the Caucasian population.Semantic proximity Read ↗

An Arg307 to Gln polymorphism within the ATP-binding site causes loss of function of the human P2X7 receptor.Semantic proximity Read ↗

The His155Tyr (489C>T) single nucleotide polymorphism of P2RX7 gene confers an enhanced function of P2X7 receptor in immune cells from patients with rheumatoid arthritis.Semantic proximity Read ↗

A Thr357 to Ser polymorphism in homozygous and compound heterozygous subjects causes absent or reduced P2X7 function and impairs ATP-induced mycobacterial killing by macrophages.Semantic proximity Read ↗

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