Diversity and impact of rare variants in genes encoding the platelet G protein-coupled receptors

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Jones, M.L.; Norman, J.E.; Morgan, N.V.; Mundell, S.J.; Lordkipanidze, M.; Lowe, G.C.; Daly, M.E.; Simpson, M.A.; Drake, S.; Watson, S.P.; Mumford, A.D.; UKGAPPS,;
  • Publisher: Schattauer

Platelet responses to activating agonists are influenced by common\ud population variants within or near G protein-coupled receptor (GPCR)\ud genes that affect receptor activity. However, the impact of rare GPCR\ud gene variants is unknown. We describe the rare single n... View more
  • References (37)
    37 references, page 1 of 4

    1. Jones CI, Bray S, Garner SF, et al. A functional genomics approach reveals novel quantitative trait loci associated with platelet signaling pathways. Blood 2009; 114: 1405-1416.

    2. Johnson AD, Yanek LR, Chen MH, et al. Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists. Nature Gen 2010; 42: 608-613.

    3. Dupont A, Fontana P, Bachelot-Loza C, et al. An intronic polymorphism in the PAR-1 gene is associated with platelet receptor density and the response to SFLLRN. Blood 2003; 101: 1833-1840.

    4. Muehlschlegel JD, Perry TE, Liu KY, et al. Polymorphism in the protease-activated receptor-4 gene region associates with platelet activation and perioperative myocardial injury. Am J Hematol 2012; 87: 161-166.

    5. Fontana P, Gandrille S, Remones V, et al. Identification of functional polymorphisms of the thromboxane A2 receptor gene in healthy volunteers. Thromb Haemost 2006; 96: 356-360.

    6. Zee RY, Michaud SE, Diehl KA, et al. Purinergic receptor P2Y, G-protein coupled, 12 gene variants and risk of incident ischemic stroke, myocardial infarction, and venous thromboembolism. Atherosclerosis 2008; 197: 694-699.

    7. Small KM, Brown KM, Seman CA, et al. Complex haplotypes derived from noncoding polymorphisms of the intronless alpha2A-adrenergic gene diversify receptor expression. Proc Natl Acad Sci USA 2006; 103: 5472-5477.

    8. Genomes Project C, Abecasis GR, Altshuler D, et al. A map of human genome variation from population-scale sequencing. Nature 2010; 467: 1061-1073.

    9. Li Y, Vinckenbosch N, Tian G, et al. Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants. Nature Gen 2010; 42: 969-972.

    10. Tennessen JA, Bigham AW, O'Connor TD, et al. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 2012; 337: 64-69.

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