Basic information of MEFV :
| Official Symbol of Gene | MEFV |
| Species | Homo sapiens |
| Entrez Gene ID | 4210 |
| Official Full Name | MEFV innate immunity regulator, pyrin |
| Also known as | FMF; MEF; PAAND; TRIM20 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000103313 MIM:608107; AllianceGenome:HGNC:6998 |
| Map Location | 16p13.3 |
| Variation Type | mutation |
| refSNP ID | E148Q |
Sample information of multiple sclerosis:
| Detected Sample | blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | German |
| Sample Size | One-hundred and fifty seven MS patients(group 1),260 independent MS patients (group 2) and 400 unrelated Caucasian controls (group 3) |
Literature information of multiple sclerosis :
| Pubmed ID | 22337722 |
| Year | 2012 |
| Title | Familial Mediterranean fever-associated mutation pyrin E148Q as a potential risk factor for multiple sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | In group 1, 19 MS patients (12.1%) tested positive for a mutation in the MEFV gene, mainly the E148Q (n=7) substitution. |
| Mechanism/Pathway | N/A |
