title: Genetics of the P2X7 receptor and human disease.
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.affiliation: Nepean Clinical School, Nepean Hospital, University of Sydney, Penrith, NSW, 2750, Australia.
authors.forename: Stephen J
authors.initials: SJ
authors.lastname: Fuller
authors.forename: Leanne
authors.initials: L
authors.lastname: Stokes
authors.forename: Kristen K
authors.initials: KK
authors.lastname: Skarratt
authors.forename: Ben J
authors.initials: BJ
authors.lastname: Gu
authors.forename: James S
authors.initials: JS
authors.lastname: Wiley