Article
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.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Aug 2010
Stokes Leanne, Fuller Stephen J, Sluyter Ronald, Skarratt Kristen K, Gu Ben J, Wiley James S
Abstract excerpt
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...
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