Two haplotypes of the P2X(7) receptor containing the Ala-348 to Thr polymorphism exhibit a gain-of-function effect and enhanced interleukin-1beta secretion.

@article{Stokes2010TwoHO,
  title={Two haplotypes of the P2X(7) receptor containing the Ala-348 to Thr polymorphism exhibit a gain-of-function effect and enhanced interleukin-1beta secretion.},
  author={Leanne Stokes and Stephen J. Fuller and Ronald Sluyter and Kristen K. Skarratt and Ben J Gu and James S. Wiley},
  journal={FASEB journal : official publication of the Federation of American Societies for Experimental Biology},
  year={2010},
  volume={24 8},
  pages={
          2916-27
        }
}
The P2X(7) receptor is an ATP-gated cation channel expressed in immune cells and plays a role in proinflammatory cytokine release from monocytes and macrophages. This study investigated the coinheritance of 12 functionally relevant single nucleotide polymorphisms (SNPs) in the human P2X(7) gene (P2RX7), and the functional effect of each singly and in combination was assessed by measurements of ATP-induced currents and ethidium(+) uptake. Genotyping of 3430 Caucasian subjects identified 4 common… CONTINUE READING

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Genetics of the P2X7 receptor and disease

Fuller, L S.J.S., K. K. Skarratt, B. J. Gu, J. S. Wiley
  • Purinergic Signal
  • 2009
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