Basic information of PRRC2A :
| Official Symbol of Gene | PRRC2A |
| Species | Homo sapiens |
| Entrez Gene ID | 13918 |
| Official Full Name | proline rich coiled-coil 2A |
| Also known as | G2; BAT2; D6S51; D6S51E |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000204469 MIM:142580; AllianceGenome:HGNC:13918 |
| Map Location | 6p21.33 |
| Variation Type | SNP |
| refSNP ID | rs2242659 |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | Han Chinese population |
| Sample Size | 207 NMOSD cases ã€141 MS cases and 196 controls |
Literature information of multiple sclerosis :
| Pubmed ID | 32862241 |
| Year | 2020 |
| Title | Common genetic variants in PRRC2A are associated with both neuromyelitis optica spectrum disorder and multiple sclerosis in Han Chinese population |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | Genotype AT of rs2844470 and AG of rs2242659 increased risk susceptibility for AQP4+ NMOSD and MS |
| Mechanism/Pathway | The identified PRRC2A variants may shed light on the pathogenesis of NMOSD and MS and potentially lead to an individualized therapeutic approach for both distinct disease entities |
