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.

SUBMITTER: Fuller SJ 

PROVIDER: S-EPMC2686826 | biostudies-literature | 2009 Jun

REPOSITORIES: biostudies-literature