Genetics of the P2X7 receptor and human disease

25 March 2009

journal article
research article
Published by Springer Nature in Purinergic Signalling

Vol. 5 (2) , 257-262
https://doi.org/10.1007/s11302-009-9136-4

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.

Keywords

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