Basic information of P2RX7 :
| Official Symbol of Gene | P2RX7 |
| Species | Homo sapiens |
| Entrez Gene ID | 5027 |
| Official Full Name | purinergic receptor P2X 7 |
| Also known as | P2X7 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000089041 MIM:602566; AllianceGenome:HGNC:8537 |
| Map Location | 12q24.31 |
| Variation Type | SNP |
| refSNP ID | rs22390912 |
Sample information of multiple sclerosis:
| Detected Sample | Blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | 34 SPMS,94 RRMS |
| Population | N/A |
| Sample Size | 128 patients,128 HCs |
Literature information of multiple sclerosis :
| Pubmed ID | 36499708 |
| Year | 2022 |
| Title | Two Single Nucleotide Polymorphisms in the Purinergic Receptor P2X7 Gene Are Associated with Disease Severity in Multiple Sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | positive |
| Result | Although being preliminary and needing confirmation in an ampler cohort, these results suggest that 348Thr and 464Arg variants have a role as modulators of disease severity in RRMS patients. |
| Mechanism/Pathway | N/A |
