Genetics of the P2X7 receptor and human disease.
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ABSTRACT:
SUBMITTER: Fuller SJ
PROVIDER: S-EPMC2686826 | biostudies-literature | 2009 Jun
REPOSITORIES: biostudies-literature
Publications
Genetics of the P2X7 receptor and human disease.
Fuller Stephen J SJ Stokes Leanne L Skarratt Kristen K KK Gu Ben J BJ Wiley James S JS
Purinergic signalling 20090325 2
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 S ...[more]
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