Genetics of the P2X7 receptor and human disease |
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| Authors: | Stephen J. Fuller Leanne Stokes Kristen K. Skarratt Ben J. Gu James S. Wiley |
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| Affiliation: | (1) Nepean Clinical School, Nepean Hospital, University of Sydney, Penrith, NSW, 2750, Australia |
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| 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. |
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| Keywords: | P2X7 receptor Genetics Single nucleotide polymorphisms Linkage disequilibrium |
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