Genetics of the P2X7 receptor and human disease

作者：Fuller Stephen J; Stokes Leanne; Skarratt Kristen K; Gu Ben J; Wiley James S^*

来源：Purinergic Signalling, 2009, 5(2): 257-262.

DOI：10.1007/s11302-009-9136-4

• P2X7 receptor
• Genetics
• Single nucleotide polymorphisms
• Linkage disequilibrium

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.

• 出版日期2009-6