Human P2X7 Pore Function Predicts Allele Linkage Disequilibrium

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Abstract
Background: Innate immune response amplification is achieved by leukocyte expression of the purinergic nucleotide receptor P2X7, an extracellular nucleotide-gated pore. Previously, low P2X7 pore activity in whole blood was associated with loss-of-function genotypes in correlation with a decreased ratio of lipopolysaccharide-stimulated tumor necrosis factor-α to interleukin-10, of relevance to a variety of infectious and inflammatory disorders. We hypothesized that evaluation of participants with discordance between the P2X7 genotype and pore status would disclose additional alleles, linkage disequilibrium, and novel functional correlates of genotype to phenotype.
Funding Information
  • Will Rogers Institute
  • NIH (MO1 RR03186, HL56396, 1 K12 RR01761401)
  • Departments of Medicine and Anesthesiology
  • University of Wisconsin General Clinical Research Center (NIH M01 RR03186)
  • American College of Chest Physicians’