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Purinergic Signal. 2009 Jun;5(2):257-62. doi: 10.1007/s11302-009-9136-4. Epub 2009 Mar 25.

Genetics of the P2X7 receptor and human disease.

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Nepean Clinical School, Nepean Hospital, University of Sydney, Penrith, NSW, 2750, Australia.


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.

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