Basic information of MTHFR :
| Official Symbol of Gene | MTHFR |
| Species | Homo sapiens |
| Entrez Gene ID | 7436 |
| Official Full Name | methylenetetrahydrofolate reductase |
| Also known as | N/A |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000177000 MIM:607093; AllianceGenome:HGNC:7436 |
| Map Location | 1p36.22 |
| Variation Type | SNP |
| refSNP ID | rs1801133 |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | N/A |
| Detected Method | TaqMan PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | Polish population |
| Sample Size | 174 MS cases and 186 controls |
Literature information of multiple sclerosis :
| Pubmed ID | 31145465 |
| Year | 2019 |
| Title | Association between polymorphisms of a folate - homocysteine - methionine - SAM metabolising enzyme gene and multiple sclerosis in a Polish population |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Negative |
| Result | We found no association between polymorphisms of a folate-homocysteine-methionine-SAM metabolising gene enzyme and multiple sclerosis in a Polish population |
| Mechanism/Pathway | 5,10-methylenetetrahydrofolate reductase (MTHFR) is an essential enzyme involved in Hcy metabolism |
