Purinergic Signalling

, Volume 5, Issue 2, pp 257–262

Genetics of the P2X7 receptor and human disease

  • Stephen J. Fuller
  • Leanne Stokes
  • Kristen K. Skarratt
  • Ben J. Gu
  • James S. Wiley
Original Article

DOI: 10.1007/s11302-009-9136-4

Cite this article as:
Fuller, S.J., Stokes, L., Skarratt, K.K. et al. Purinergic Signalling (2009) 5: 257. doi:10.1007/s11302-009-9136-4

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.

Keywords

P2X7 receptorGeneticsSingle nucleotide polymorphismsLinkage disequilibrium

Copyright information

© Springer Science+Business Media B.V. 2009

Authors and Affiliations

  • Stephen J. Fuller
    • 1
  • Leanne Stokes
    • 1
  • Kristen K. Skarratt
    • 1
  • Ben J. Gu
    • 1
  • James S. Wiley
    • 1
  1. 1.Nepean Clinical School, Nepean HospitalUniversity of SydneyPenrithAustralia