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 |
| Variation Type | SNP |
| refSNP ID | rs1801131 |
Sample information of multiple sclerosis:
| Detected Sample | Peripheral blood |
| Sample Detail | N/A |
| Detected Method | PCR-RFLP |
| Disease | MS |
| Disease subtype | N/A |
| Population | N/A |
| Sample Size | 80 MS patients (24 men and 56 women; 43.18 ± 11.27 years old) and 80 healthy controls (27 men and 53 women; 38.06 ± 9.31 years old) |
Literature information of multiple sclerosis :
| Pubmed ID | 31038186 |
| Year | 2019 |
| Title | Relationship between genetic polymorphisms MTHFR (C677T, A1298C), MTR (A2756G) and MTRR (A66G) genes and multiple sclerosis: a case-control study |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | In our study, we observed that the frequency of the T/T genotype for the MTHFR C[677]T polymorphism was significantly higher in patients than in controls (p = 0.04, OR: 3.16, 95% CI: 1.23-8.17).Though for the MTHFR A[1298]C polymorphism, the A/A genotype was more frequent in controls than in patients (41.3% vs. 32.5%, p = 0.04). Similarly to previous studies, we found a possible link between an increased risk of MS and the MTHFR C[677]T polymorphism and a decreased risk (protective effects) of MS and the MTHFR A[1298]C polymorphism |
| Result | There were no differences in distribution of genotypes for the MTR A[66]G and MTR A[2756]C polymorphisms between patients with MS and controls (p > 0.05). Our findings suggested that the MTHFR C[677]T and MTHFR A[1298]C gene polymorphisms might be associated with MS as genetic factors influencing the risk of the disease |
| Mechanism/Pathway | Methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR) and methionine synthase reductase (MTRR) are essential enzymes in folate and Hcy metabolism, also in methylation reactions which provide a methyl group for conversion of homocysteine into methionine. MTHFR converts 5,10-methylenetetrahydrofolate, in a reaction catalysed by MTR |
