الملخص الإنجليزي
P2X7 is a ligand-gated channel receptor that is highly expressed on a number of different cell types such as lymphocytes, monocytes, macrophages, dendritic and fibroblasts cells. The P2X7 receptors have been shown to play an important role on ATP-induced apoptosis of immune cells and killing of mycobacteria by macrophages. In addition, activation of the P2X7 receptor on human macrophages leads to thier maturation as well as the release of some pro-inflammatory cytokines such as IL-1B.
Extracellular ATP activates P2X7 receptor consequently triggers downstream signaling pathway resulting in its biological processes. Functional variants causing loss and gain of function of the P2X7 have been identified. These functional variants have implicated P2X7 in inflammatory diseases.
The aim of this study is to screen for functional variants in P2X7 in 23 Omani individuals by sequencing coding DNA for exons 1, 2, 3, 4, 5, 6, 7,9, 10 and 11 of 11 healthy and 12 rheumatoid arthritis (RA) subjects.
Total of 15 single nucleotide polymorphisms (SNPs) were identified in this study, eleven were found in non-coding region within introns 1, 4, 5, 6, 7, 10, and 11, four were located in the coding regions; three of them were nonsynonymous one His 155 to Tyr in exon 5 with allele frequency 0.47 in Omani subjects. Two in exon 11 which were Ala348 to Thr and Thr357 to Ser with allele frequency 0.34 and 0.14 respectively in Omani subjects and one synonymous exonic variant was in exon 5 (488G-A). These polymorphisms are found in some subjects including both healthy and RA patients. Thus, they could be used in association studies with inflammatory diseases.
