Response heterogeneity of human macrophages to ATP is associated with P2X7 receptor expression but not to polymorphisms in the P2RX7 promoter11The sequences reported have been submitted to HGBASE and granted the following accession numbers: SNP000063001 −298 polymorphism; SNP000063002 −762 polymorphism; SNP000063003 −838 polymorphism; SNP000063004 −1140 polymorphism; SNP000063005 −1269 polymorphism.

AbstractA region 2 kb upstream of exon 1 of the P2X7 gene was sequenced using DNA from nine healthy individuals who exhibited three different ATP response phenotypes (i.e. high, low and interferon gamma-inducible). Five single nucleotide polymorphisms were identified within the nine donor promoter sequences but none were associated with a specific ATP response phenotype. A P2X7 loss of function polymorphism (1513 in exon 13) was also screened for within donor DNA but no response associations were identified. ATP response phenotype was positively associated with P2X7 receptor expression, as assessed by flow cytometry, but not with any identified receptor or promoter gene polymorphisms