P2RX7, purinergic receptor P2X 7, 5027

N. diseases: 337; N. variants: 23
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1718119
rs1718119
Entrez Id: 5027;105370032
Gene Symbol: P2RX7;LOC105370032
P2RX7;LOC105370032
CUI: C1719494
Disease:
PERIODONTITIS, LOCALIZED AGGRESSIVE
0.010 GeneticVariation BEFREE A significant association with localized aggressive periodontitis was observed with rs1718119 A (Thr) allele (P = 0.0063, odds ratio = 1.904) and with a haplotype containing this allele (P = 0.0075). 31292966 2020
dbSNP: rs1621388
rs1621388
Entrez Id: 5027;105370032
Gene Symbol: P2RX7;LOC105370032
P2RX7;LOC105370032
CUI: C0005586
Disease:
Bipolar Disorder
0.010 GeneticVariation BEFREE We investigated sex-specific genetic associations between variants of P2RX7 (rs1621388 and rs2230912) in 756 patients with bipolar disorder and 787 control patients matched on age, sex, and ancestry. 30445384 2019
dbSNP: rs1718119
rs1718119
Entrez Id: 5027;105370032
Gene Symbol: P2RX7;LOC105370032
P2RX7;LOC105370032
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
0.010 GeneticVariation BEFREE Individuals carrying rs1718119 allele A had a reduced risk (OR 0.69; 95% CI: 0.45-1.06).Genetic polymorphisms in IL17A, TLR4 and P2RX7 genes were significantly associated with altered risks for COPD. 29704988 2019
dbSNP: rs1718119
rs1718119
Entrez Id: 5027;105370032
Gene Symbol: P2RX7;LOC105370032
P2RX7;LOC105370032
CUI: C0344315
Disease:
Depressed mood
0.010 GeneticVariation BEFREE However, dimensional analyses showed significant associations of the HADS depression severity scores with Gln460Arg (rs2230912) and Ala348Thr (rs1718119) in the depressed and diabetic patient groups. 30664971 2019
dbSNP: rs1718119
rs1718119
Entrez Id: 5027;105370032
Gene Symbol: P2RX7;LOC105370032
P2RX7;LOC105370032
CUI: C1443892
Disease:
Chronic Q Fever
0.010 GeneticVariation BEFREE RAB7A (rs13081864) and P2RX7 (rs3751143) are associated with the development of chronic Q fever, whereas RAB5A (rs8682), P2RX7 (rs1718119), MAP1LC3A (rs1040747) and ATG5 (rs2245214) may have protective effects. 30616015 2019
dbSNP: rs1718119
rs1718119
Entrez Id: 5027;105370032
Gene Symbol: P2RX7;LOC105370032
P2RX7;LOC105370032
CUI: C0011570
Disease:
Mental Depression
0.010 GeneticVariation BEFREE However, dimensional analyses showed significant associations of the HADS depression severity scores with Gln460Arg (rs2230912) and Ala348Thr (rs1718119) in the depressed and diabetic patient groups. 30664971 2019
dbSNP: rs1718119
rs1718119
Entrez Id: 5027;105370032
Gene Symbol: P2RX7;LOC105370032
P2RX7;LOC105370032
CUI: C0005586
Disease:
Bipolar Disorder
0.010 GeneticVariation BEFREE Therefore, we aimed to investigate the C-terminal region of this gene in major depressive and bipolar disorders (MDD and BD) by studying possibly functional, non-synonymous polymorphisms within a 7 kb long region around the Gln460Arg, including Ala348Thr (rs1718119), Thr357Ser (rs2230911), and Glu496Ala (rs3751143) variants. 30664971 2019
dbSNP: rs1718119
rs1718119
Entrez Id: 5027;105370032
Gene Symbol: P2RX7;LOC105370032
P2RX7;LOC105370032
CUI: C0011581
Disease:
Depressive disorder
0.010 GeneticVariation BEFREE However, dimensional analyses showed significant associations of the HADS depression severity scores with Gln460Arg (rs2230912) and Ala348Thr (rs1718119) in the depressed and diabetic patient groups. 30664971 2019
dbSNP: rs1718125
rs1718125
Entrez Id: 5027;105370032
Gene Symbol: P2RX7;LOC105370032
P2RX7;LOC105370032
CUI: C0030201
Disease:
Pain, Postoperative
0.010 GeneticVariation BEFREE Moreover, the patients carrying GA and AA genotypes needed more fentanyl to control pain within 48 hours after surgery (P < .05 for all).P2RX7 gene rs1718125 polymorphism is significantly associated with postoperative pain and fentanyl consumption in patients with lung cancer. 30762755 2019
dbSNP: rs1718125
rs1718125
Entrez Id: 5027;105370032
Gene Symbol: P2RX7;LOC105370032
P2RX7;LOC105370032
CUI: C0563625
Disease:
Agnosia for Pain
0.010 GeneticVariation BEFREE Correlation of P2RX7 gene rs1718125 polymorphism with postoperative fentanyl analgesia in patients with lung cancer. 30762755 2019
dbSNP: rs1718125
rs1718125
Entrez Id: 5027;105370032
Gene Symbol: P2RX7;LOC105370032
P2RX7;LOC105370032
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE Moreover, the patients carrying GA and AA genotypes needed more fentanyl to control pain within 48 hours after surgery (P < .05 for all).P2RX7 gene rs1718125 polymorphism is significantly associated with postoperative pain and fentanyl consumption in patients with lung cancer. 30762755 2019
dbSNP: rs1718125
rs1718125
Entrez Id: 5027;105370032
Gene Symbol: P2RX7;LOC105370032
P2RX7;LOC105370032
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE Moreover, the patients carrying GA and AA genotypes needed more fentanyl to control pain within 48 hours after surgery (P < .05 for all).P2RX7 gene rs1718125 polymorphism is significantly associated with postoperative pain and fentanyl consumption in patients with lung cancer. 30762755 2019
dbSNP: rs1718125
rs1718125
Entrez Id: 5027;105370032
Gene Symbol: P2RX7;LOC105370032
P2RX7;LOC105370032
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE Moreover, the patients carrying GA and AA genotypes needed more fentanyl to control pain within 48 hours after surgery (P < .05 for all).P2RX7 gene rs1718125 polymorphism is significantly associated with postoperative pain and fentanyl consumption in patients with lung cancer. 30762755 2019
dbSNP: rs2230911
rs2230911
Entrez Id: 5027;105370032
Gene Symbol: P2RX7;LOC105370032
P2RX7;LOC105370032
CUI: C0029458
Disease:
Osteoporosis, Postmenopausal
0.010 GeneticVariation BEFREE <b>Results:</b><i>P2X7R</i> rs2230911 was found to be associated with serum total cholesterol, triglyceride (TG), high-density lipoprotein (HDL), low-density lipoprotein, and BMD at the lumbar spine and hip in OP patients (<i>p</i> < 0.05). 31079509 2019
dbSNP: rs2230911
rs2230911
Entrez Id: 5027;105370032
Gene Symbol: P2RX7;LOC105370032
P2RX7;LOC105370032
CUI: C0005586
Disease:
Bipolar Disorder
0.010 GeneticVariation BEFREE Therefore, we aimed to investigate the C-terminal region of this gene in major depressive and bipolar disorders (MDD and BD) by studying possibly functional, non-synonymous polymorphisms within a 7 kb long region around the Gln460Arg, including Ala348Thr (rs1718119), Thr357Ser (rs2230911), and Glu496Ala (rs3751143) variants. 30664971 2019
dbSNP: rs28360451
rs28360451
Entrez Id: 5027;105370032
Gene Symbol: P2RX7;LOC105370032
P2RX7;LOC105370032
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy
0.010 GeneticVariation BEFREE Only one non-synonymous mutation (p. Glu186Lys or E186K) in exon 6 of P2X7 gene segregated in HCM-affected individuals which was absent in unaffected family members and 100 clinically evaluated controls. 31152337 2019
dbSNP: rs3751143
rs3751143
Entrez Id: 5027;105370032
Gene Symbol: P2RX7;LOC105370032
P2RX7;LOC105370032
CUI: C1443892
Disease:
Chronic Q Fever
0.010 GeneticVariation BEFREE RAB7A (rs13081864) and P2RX7 (rs3751143) are associated with the development of chronic Q fever, whereas RAB5A (rs8682), P2RX7 (rs1718119), MAP1LC3A (rs1040747) and ATG5 (rs2245214) may have protective effects. 30616015 2019
dbSNP: rs3751143
rs3751143
Entrez Id: 5027;105370032
Gene Symbol: P2RX7;LOC105370032
P2RX7;LOC105370032
CUI: C0005586
Disease:
Bipolar Disorder
0.010 GeneticVariation BEFREE Therefore, we aimed to investigate the C-terminal region of this gene in major depressive and bipolar disorders (MDD and BD) by studying possibly functional, non-synonymous polymorphisms within a 7 kb long region around the Gln460Arg, including Ala348Thr (rs1718119), Thr357Ser (rs2230911), and Glu496Ala (rs3751143) variants. 30664971 2019
dbSNP: rs3751143
rs3751143
Entrez Id: 5027;105370032
Gene Symbol: P2RX7;LOC105370032
P2RX7;LOC105370032
CUI: C0029458
Disease:
Osteoporosis, Postmenopausal
0.010 GeneticVariation BEFREE <i>P2X7R</i> rs3751143 was shown to be associated with serum TG and hip BMD in OP patients (<i>p</i> < 0.05). 31079509 2019
dbSNP: rs7958311
rs7958311
Entrez Id: 5027;105370032
Gene Symbol: P2RX7;LOC105370032
P2RX7;LOC105370032
CUI: C0038013
Disease:
Ankylosing spondylitis
0.010 GeneticVariation BEFREE The allelic variation of rs7958311 SNP in <i>P2X7R</i> gene may have a protective effect on AS susceptibility in females and is associated with disease activity in male patients. 30992418 2019
dbSNP: rs2393799
rs2393799
Entrez Id: 5027;105370032
Gene Symbol: P2RX7;LOC105370032
P2RX7;LOC105370032
CUI: C0028754
Disease:
Obesity
0.010 GeneticVariation BEFREE No association with obesity or overweight was observed for the other three P2X7R polymorphisms (rs2393799, rs7958311, and rs3751143). 29088017 2018
dbSNP: rs3751143
rs3751143
Entrez Id: 5027;105370032
Gene Symbol: P2RX7;LOC105370032
P2RX7;LOC105370032
CUI: C0028754
Disease:
Obesity
0.010 GeneticVariation BEFREE No association with obesity or overweight was observed for the other three P2X7R polymorphisms (rs2393799, rs7958311, and rs3751143). 29088017 2018
dbSNP: rs1653624
rs1653624
Entrez Id: 5027;105370032
Gene Symbol: P2RX7;LOC105370032
P2RX7;LOC105370032
CUI: C0740394
Disease:
Hyperuricemia
0.010 GeneticVariation BEFREE IL-1β concentrations in supernatants after MSU + ATP stimulation were significantly higher in gouty patients than in the hyperuricemia group [(131.08 ± 176.11) pg/ml vs. (50.84 ± 86.10) pg/ml]; Patients (including gout and hyperuricemia) carrying the susceptibility genotype AA or AT of rs1653624 exhibited significantly higher concentrations of IL-1β than patients carrying the non-susceptibility genotype TT [(104.20 ± 164.25) pg/ml vs. (21.90 ± 12.14) pg/ml]; However, no differences were found with MSU stimulation alone. 28797095 2017
dbSNP: rs1718119
rs1718119
Entrez Id: 5027;105370032
Gene Symbol: P2RX7;LOC105370032
P2RX7;LOC105370032
CUI: C0151332
Disease:
Active tuberculosis
0.010 GeneticVariation BEFREE The allele A of rs1718119 was related to a reduced risk for all active tuberculosis (OR for each additional allele A: 0.81, 95% CI: 0.69-0.94) and sputum smear-positive cases (OR for each additional allele A: 0.78, 95% CI: 0.66-0.93). 28495473 2017
dbSNP: rs1718119
rs1718119
Entrez Id: 5027;105370032
Gene Symbol: P2RX7;LOC105370032
P2RX7;LOC105370032
CUI: C0029456
Disease:
Osteoporosis
0.010 GeneticVariation BEFREE Results showed that rs3751143 was associated with OP; in particular, carriers of the C allele and CC/(AC + CC) genotypes were at a higher risk of OP, but no significant association of rs2230911, rs7958311, rs1718119, and rs2393799 with OP risk was observed. 28497417 2017