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. 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

Stephen J Fuller  1 , Leanne Stokes, Kristen K Skarratt, Ben J Gu, James S Wiley
Affiliations

Genetics of the P2X7 receptor and human disease

Stephen J Fuller et al. Purinergic Signal. 2009 Jun.

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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Figures

Fig. 1
Fig. 1
HaploView analysis of pairwise linkage disequilibrium in the P2RX7 gene using ten marker SNPs that change receptor function. The colours represent the relative D’/LOD score where bright red is D’=1; LOD≥2 and blue D’=1; LOD<2, shades of pink D’<1; LOD≥2, white D’ < 1; LOD < 2. Numbers represent D’ scores for pair-wise linkage disequilibrium
Fig. 2
Fig. 2
ATP-induced ethidium uptake into HEK293 cells transfected with P2X7 constructs mutated at polymorphic positions that alter function. a Gain-of-function mutation His155 to Tyr is shown either on a wild-type background or combined with the Gln460 to Arg (Q460R) variation (H155Y Q460R). b Loss-of-function mutation Glu496 to Ala is shown either on a wild-type background (E496A) or combined with the His155 to Tyr (H155Y) variation (H155Y E496A)
See this image and copyright information in PMC

References

    1. {'text': '', 'ref_index': 1, 'ids': [{'type': 'DOI', 'value': '10.1038/nature03001', 'is_inner': False, 'url': 'https://doi.org/10.1038/nature03001'}, {'type': 'PubMed', 'value': '15496913', 'is_inner': True, 'url': 'https://pubmed.ncbi.nlm.nih.gov/15496913/'}]}
    2. International Human Genome Consortium (2004) Finishing the euchromatic sequence of the human genome. Nature 431(7011):931–45 - PubMed
    1. {'text': '', 'ref_index': 1, 'ids': [{'type': 'DOI', 'value': '10.1038/nature04226', 'is_inner': False, 'url': 'https://doi.org/10.1038/nature04226'}, {'type': 'PMC', 'value': 'PMC1880871', 'is_inner': False, 'url': 'https://pmc.ncbi.nlm.nih.gov/articles/PMC1880871/'}, {'type': 'PubMed', 'value': '16255080', 'is_inner': True, 'url': 'https://pubmed.ncbi.nlm.nih.gov/16255080/'}]}
    2. The International HapMap Consortium (2005) A haplotype map of the human genome. Nature 437(7063):1299–1320 - PMC - PubMed
    1. {'text': '', 'ref_index': 1, 'ids': [{'type': 'DOI', 'value': '10.1086/301749', 'is_inner': False, 'url': 'https://doi.org/10.1086/301749'}, {'type': 'PMC', 'value': 'PMC1376944', 'is_inner': False, 'url': 'https://pmc.ncbi.nlm.nih.gov/articles/PMC1376944/'}, {'type': 'PubMed', 'value': '9497246', 'is_inner': True, 'url': 'https://pubmed.ncbi.nlm.nih.gov/9497246/'}]}
    2. Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P et al (1998) Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 62(3):676–689 - PMC - PubMed
    1. {'text': '', 'ref_index': 1, 'ids': [{'type': 'DOI', 'value': '10.1136/jmg.28.5.289', 'is_inner': False, 'url': 'https://doi.org/10.1136/jmg.28.5.289'}, {'type': 'PMC', 'value': 'PMC1016845', 'is_inner': False, 'url': 'https://pmc.ncbi.nlm.nih.gov/articles/PMC1016845/'}, {'type': 'PubMed', 'value': '1650842', 'is_inner': True, 'url': 'https://pubmed.ncbi.nlm.nih.gov/1650842/'}]}
    2. Burn J, Chapman P, Delhanty J, Wood C, Lalloo F, Cachon-Gonzalez MB et al (1991) The UK Northern region genetic register for familial adenomatous polyposis coli: use of age of onset, congenital hypertrophy of the retinal pigment epithelium, and DNA markers in risk calculations. J Med Genet 28(5):289–296 - PMC - PubMed
    1. {'text': '', 'ref_index': 1, 'ids': [{'type': 'DOI', 'value': '10.1038/nature05911', 'is_inner': False, 'url': 'https://doi.org/10.1038/nature05911'}, {'type': 'PMC', 'value': 'PMC2719288', 'is_inner': False, 'url': 'https://pmc.ncbi.nlm.nih.gov/articles/PMC2719288/'}, {'type': 'PubMed', 'value': '17554300', 'is_inner': True, 'url': 'https://pubmed.ncbi.nlm.nih.gov/17554300/'}]}
    2. The Wellcome Trust Case Control Consortium (2007) Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447(7145):661–678 - PMC - PubMed