Genetics of the P2X7 receptor and human disease.

Purinergic signalling ·Vol. 5 ·No. 2 ·2009-06-00 ·Pages 257-62

Fuller SJ, Stokes L, Skarratt KK, Gu BJ, Wiley JS

Abstract

The P2RX7 gene is highly polymorphic, and many single nucleotide polymorphisms (SNPs) underlie the wide variation observed in P2X7 receptor responses. We review the discovery of those non-synonymous SNPs that affect receptor function and compare their frequencies in different ethnic populations. Analysis of pairwise linkage disequilibrium (LD) predicts a limited range of haplotypes. The strong LD between certain functional SNPs provides insight into published studies of the association between SNPs and human disease.

Authors & Affiliations

5 authors, click to expand affiliations / ORCID

Fuller Stephen J

Nepean Clinical School, Nepean Hospital, University of Sydney, Penrith, NSW, 2750, Australia.

Stokes Leanne

Skarratt Kristen K

Gu Ben J

Wiley James S

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Article Info

Journal

Purinergic signalling

Abbr.

Purinergic Signal

ISSN

1573-9538

DOI

10.1007/s11302-009-9136-4

Published

2009-06-00

Epub

2009-00-25

Pages

257-62

Language

English

Region

Netherlands

NLM ID

101250499

PMCID

PMC2686826

External Links

PubMed source DOI: 10.1007/s11302-009-9136-4 PMC Full Text View journal details

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Genetics of the P2X7 receptor and human disease.

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