Basic information of MTHFR :
| Official Symbol of Gene | MTHFR |
| Species | Homo sapiens |
| Entrez Gene ID | 4524 |
| Official Full Name | methylenetetrahydrofolate reductase |
| Also known as | Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000177000 MIM:607093; AllianceGenome:HGNC:7436 |
| Map Location | 1p36.22 |
Sample information of multiple sclerosis:
| Detected Sample | Peripheral blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | RR-MSã€SP-MSã€PP-MS |
| Population | Caucasian |
| Sample Size | 104 MS-affected individuals and 104 controls |
Literature information of multiple sclerosis :
| Pubmed ID | 16564429 |
| Year | 2006 |
| Title | Genetic investigation of methylenetetrahydrofolate reductase (MTHFR) and catechol-O-methyl transferase (COMT) in multiple sclerosis |
Results of multiple sclerosis :
| Expression | up-regulation |
| Risk type | Disease risk |
| Result | We tested DNA from Australian MS patients and unaffected control subjects, matched for gender, age and ethnicity. Specifically, we genotyped the MTHFR C677T and the COMT G158A mutations. Genotype distributions showed that the homozygous mutant MTHFR genotype (T/T) and the COMT (H/H) genotype were slightly over-represented in the MS group (16% versus 11% and 24% versus 19%, respectively), but both variations failed to reach statistical significance (P = 0.15 and P = 0.32, respectively). Hence, results from the present study do not support a major role for either functional gene mutation in MS susceptibility |
| Mechanism/Pathway | The C677T substitution variant in the methylenetetrahydrofolate reductase (MTHFR) gene has been associated with increased levels of circulating homocysteine and is a mild risk factor for vascular disease |
