P2RX7, purinergic receptor P2X 7, 5027

N. diseases: 337; N. variants: 23
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.590 AlteredExpression disease BEFREE We previously showed that the P2X7 receptor (P2X7R or P2RX7) is overexpressed in circulating lymphocytes from chronic lymphocytic leukemia (CLL) patients. 27221966 2016
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.590 GeneticVariation disease BEFREE A P2X7 receptor gene polymorphism 1513 A-->C has recently been suggested as playing a role in the pathogenesis and disease progression of chronic lymphocytic leukemia, although several studies have failed to show any effect of the polymorphism. 16321858 2006
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.590 GeneticVariation disease BEFREE A meta-analysis of this study and five other smaller published studies provides no evidence of relationship between this P2X7 polymorphism and risk of CLL (odds ratio = 0.99, 95% confidence interval: 0.74-1.32). 15184265 2004
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.590 GeneticVariation disease BEFREE In conclusion, our data do not support a role of the P2X7 genotype as a prognostic marker in B-cell CLL. 15089763 2004
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.590 GeneticVariation disease BEFREE We conclude that the influence, if any, of P2X7 genotype on susceptibility to CLL or clinical outcome is small. 12931211 2003
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.590 GeneticVariation disease BEFREE These results indicate that the 1513 A-->C polymorphism of the P2X7 gene is unlikely to play a significant role in the pathogenesis or disease progression of B-CLL. 14510944 2003
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.590 GeneticVariation disease BEFREE We investigated tumour DNA in 170 patients with CLL using PCR-RFLP analysis with HhaI restriction enzyme cleavage to screen for the polymorphism in the P2X7 receptor gene. 12493261 2002
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.590 GeneticVariation disease BEFREE Activation of the P2X7 receptor leads to apoptosis of lymphocytes in individuals with CLL, and reduced function of this receptor has an anti-apoptotic effect, resulting in an increase in B-cell numbers. 11943260 2002
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.590 AlteredExpression disease BEFREE P2X7 receptor expression in evolutive and indolent forms of chronic B lymphocytic leukemia. 11781259 2002
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.590 GeneticVariation disease LHGDN Activation of the P2X7 receptor leads to apoptosis of lymphocytes in individuals with CLL, and reduced function of this receptor has an anti-apoptotic effect, resulting in an increase in B-cell numbers. 11943260 2002
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.590 Biomarker disease ORPHANET We investigated tumour DNA in 170 patients with CLL using PCR-RFLP analysis with HhaI restriction enzyme cleavage to screen for the polymorphism in the P2X7 receptor gene. 12493261 2002
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.590 Biomarker disease CTD_human Expression of P2X(7) purinoceptors on human lymphocytes and monocytes: evidence for nonfunctional P2X(7) receptors. 11003599 2000
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.400 GeneticVariation disease BEFREE P2RX7 variants implying an increased pore activity were more common in bipolar disorder, in females but not in males. 30445384 2019
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.400 GeneticVariation disease BEFREE Bipolar disorder and 1513A>C P2RX7 polymorphism frequency. 30521946 2019
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.400 Biomarker disease BEFREE However, the effect of P2X7R antagonism in an animal model of depression based on selective breeding has not previously been studied, and the mechanism underling the antidepressant-like effect induced by the P2X7R blockade remains unknown. 31526216 2019
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.400 GeneticVariation disease BEFREE However, there is scarce evidence about the alterations in P2RX7 or P2RX4 levels and in behavioral consequences induced by previous exposure to stress, a major risk factor for depression in humans. 31656696 2019
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.400 GeneticVariation disease BEFREE Importantly, blockade of P2X7R leads to antidepressant-like effects in different animal models, which corroborates the findings that the gene encoding for the P2X7R is located in a susceptibility locus of relevance to depression in humans. 31174279 2019
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.400 Biomarker disease BEFREE The combination of the depression-associated P2RX7 C-terminal and 3' UTR SNPs contributed to the highest depression severity score in the haplotype analysis. 30664971 2019
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.400 GeneticVariation disease BEFREE Importantly, blockade of P2X7R leads to antidepressant-like effects in different animal models, which corroborates the findings that the gene encoding for the P2X7R is located in a susceptibility locus of relevance to depression in humans. 31174279 2019
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.400 Biomarker disease BEFREE However, the effect of P2X7R antagonism in an animal model of depression based on selective breeding has not previously been studied, and the mechanism underling the antidepressant-like effect induced by the P2X7R blockade remains unknown. 31526216 2019
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.400 GeneticVariation disease BEFREE However, there is scarce evidence about the alterations in P2RX7 or P2RX4 levels and in behavioral consequences induced by previous exposure to stress, a major risk factor for depression in humans. 31656696 2019
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.400 Biomarker disease BEFREE The combination of the depression-associated P2RX7 C-terminal and 3' UTR SNPs contributed to the highest depression severity score in the haplotype analysis. 30664971 2019
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.400 Biomarker disease BEFREE Microglia-mediated neuroinflammation accompanies many central nervous system (CNS) diseases, including multiple sclerosis (MS), and is strongly dependent on the purinergic P2X7 receptor. 30209761 2019
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.400 AlteredExpression disease BEFREE In the neuroinflammatory foci of MS there is increased expression of a purinergic receptor, P2X7R. 30908981 2019
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.400 Biomarker disease BEFREE In this review, we will summarize recent findings highlighting the potential of P2X4 and P2X7 as therapeutic targets for MS. 31015145 2019