Genetics of the P2X7 receptor and human disease
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.
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.
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.
Springer