Genetics of the P2X7 receptor and human disease
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- Fuller, S.J., Stokes, L., Skarratt, K.K. et al. Purinergic Signalling (2009) 5: 257. doi:10.1007/s11302-009-9136-4
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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.