Normal allele: TT
Reduces the formation of the active form of folic acid, which is necessary for the remethylation of homocysteine and other DNA molecules. Administration of the active form of folic acid (5-MTHF or L-methyltetrahydrofolate) can significantly improve risk scores for the effects of mutations. Also a factor that moderately increases the need for vitamin B2.
Polymorphism rs1801131 is related to topics like this:
Vitamin B9 (folic acid)Methylation and homocysteine
Research and publications:
9545395 A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?
10677336 The 1298(A-->C) mutation of methylenetetrahydrofolate reductase should be designated to the 1289 position of the gene
10958762 Neonatal and fetal methylenetetrahydrofolate reductase genetic polymorphisms: an examination of C677T and A1298C mutations
11590551 Examinations of methylenetetrahydrofolate reductase C677T and A1298C mutations--and in utero viability
11742092 Effects of common polymorphisms on the properties of recombinant human methylenetetrahydrofolate reductase
11752418 Genetic diversity and disease: opportunities and challenge
11781870 The frequent 5,10-methylenetetrahydrofolate reductase C677T polymorphism is associated with a common haplotype in whites, Japanese, and Africans
11938441 Increased frequency of combined methylenetetrahydrofolate reductase C677T and A1298C mutated alleles in spontaneously aborted embryos
12560871 Genotype and haplotype distributions of MTHFR677C>T and 1298A>C single nucleotide polymorphisms: a meta-analysis
14724163 Analysis of candidate modifier loci for the severity of colonic familial adenomatous polyposis, with evidence for the importance of the N-acetyl transferases
15103709 Methylenetetrahydrofolate reductase enzyme polymorphisms as maternal risk for Down syndrome among Turkish women
15951337 Congenital heart defects and genetic variants in the methylenetetrahydroflate reductase gene
16244782 Homocysteine levels are associated with MTHFR A1298C polymorphism in Indian population
16372906 Failure to confirm influence of methyltetrahydrofolate reductase (MTHFR) polymorphisms on age at onset of Huntington disease
16642433 Polymorphism in maternal LRP8 gene is associated with fetal growth
17035141 Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions
17119116 Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study
17301261 Dietary folate intake, MTHFR genetic polymorphisms, and the risk of endometrial cancer among Chinese women
17659576 Genetic polymorphisms in the methylenetetrahydrofolate reductase and thymidylate synthase genes and risk of hepatocellular carcinoma
17697348 Technology to accelerate pangenomic scanning for unknown point mutations in exonic sequences: cycling temperature capillary electrophoresis (CTCE)
17898028 Assessment of cumulative evidence on genetic associations: interim guidelines
18098291 Folate metabolism genes, vegetable intake and renal cancer risk in central Europe
18182569 Pharmacogenetics of minimal residual disease response in children with B-precursor acute lymphoblastic leukemia: a report from the Children's Oncology Group
18191955 Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools
18199722 Dietary vitamin B6 intake and the risk of colorectal cancer
18203168 Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts
18339682 Maternal and offspring genetic variants of AKR1C3 and the risk of childhood leukemia
18521744 BRCA1 promoter methylation is associated with increased mortality among women with breast cancer
18538037 A simple and accurate SNP scoring strategy based on typeIIS restriction endonuclease cleavage and matrix-assisted laser desorption/ionization mass spectrometry
18547414 Genotyping panel for assessing response to cancer chemotherapy
18583979 Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database
18603647 Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response
18661527 Folate-related gene polymorphisms as risk factors for cleft lip and cleft palate
18669903 Green tea intake, MTHFR/TYMS genotype and breast cancer risk: the Singapore Chinese Health Study
18708404 B-vitamin intake, one-carbon metabolism, and survival in a population-based study of women with breast cancer
18708408 Vitamins B2, B6, and B12 and risk of new colorectal adenomas in a randomized trial of aspirin use and folic acid supplementation
18715757 Genetic associations with schizophrenia: meta-analyses of 12 candidate genes
18813964 Alzheimer's disease risk variants show association with cerebrospinal fluid amyloid beta
18830263 Polymorphisms in DNA repair and one-carbon metabolism genes and overall survival in diffuse large B-cell lymphoma and follicular lymphoma
18842806 Associations between single nucleotide polymorphisms in folate uptake and metabolizing genes with blood folate, homocysteine, and DNA uracil concentrations
18922824 Genetic susceptibility to childhood leukaemia
18936436 Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994
18992148 Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study
19016697 Outcomes of methotrexate therapy for psoriasis and relationship to genetic polymorphisms
19048631 Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study
19062539 [Genetic diversity and the structure of linkage disequilibrium in the methylenetetrahydrofolate reductase locus]
19064578 No association of single nucleotide polymorphisms in one-carbon metabolism genes with prostate cancer risk
19112534 Lack of association of polymorphisms in homocysteine metabolism genes with pseudoexfoliation syndrome and glaucoma
19190136 Association of thymidylate synthase gene with endometrial cancer risk in a Chinese population
19193698 Investigation of candidate polymorphisms and disease activity in rheumatoid arthritis patients on methotrexate
19272686 Effect of the MTHFR C677T and A1298C polymorphisms on survival in patients with advanced CKD and ESRD: a prospective study
19336559 Global DNA hypomethylation (LINE-1) in the normal colon and lifestyle characteristics and dietary and genetic factors
19336565 Folate intake, methylenetetrahydrofolate reductase polymorphisms, and breast cancer risk in women from the Malmö Diet and Cancer cohort
19376481 One-carbon metabolism and breast cancer: an epidemiological perspective
19421414 Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber's hereditary optic neuropathy
19427845 Diagnostic method validation: High resolution melting (HRM) of small amplicons genotyping for the most common variants in the MTHFR gene
19465420 MTHFR polymorphisms and 5-FU-based adjuvant chemotherapy in colorectal cancer
19493349 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects
19538716 Thrombotic genetic risk factors and warfarin pharmacogenetic variants in São Miguel's healthy population (Azores)
19591822 Prevalence of genetic thrombophilic polymorphisms in the Sri Lankan population--implications for association study design and clinical genetic testing services
19593234 Association analyses suggest multiple interaction effects of the methylenetetrahydrofolate reductase polymorphisms on timing of menarche and natural menopause in white women
19657388 Lack of association between genetic polymorphisms in enzymes associated with folate metabolism and unexplained reduced sperm counts
19683694 Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida
19700502 Synopsis and synthesis of candidate-gene association studies in chronic lymphocytic leukemia: the CUMAGAS-CLL information system
19706843 Alcohol consumption and genetic variation in methylenetetrahydrofolate reductase and 5-methyltetrahydrofolate-homocysteine methyltransferase in relation to breast cancer risk
19706844 Association of folate-pathway gene polymorphisms with the risk of prostate cancer: a population-based nested case-control study, systematic review, and meta-analysis
19746410 Association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and age of onset in schizophrenia
19759169 Increased breast cancer risk at high plasma folate concentrations among women with the MTHFR 677T allele
19760026 The effects of polymorphisms in methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR), and methionine synthase reductase (MTRR) on the risk of cervical intraepithelial neoplasia and cervical cancer in Korean women
19776626 Polymorphisms in methionine synthase, methionine synthase reductase and serine hydroxymethyltransferase, folate and alcohol intake, and colon cancer risk
19826048 Candidate gene association study of esophageal squamous cell carcinoma in a high-risk region in Iran
19936946 Germline polymorphisms in the one-carbon metabolism pathway and DNA methylation in colorectal cancer
20056627 Genetic variability in the MTHFR gene and colorectal cancer risk using the colorectal cancer family registry
20065319 Interaction of methylenetetrahydrofolate reductase genotype and smoking habit in Taiwanese lung cancer patients
20078613 Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and FOLFOX response in colorectal cancer patients
20078877 Gene polymorphisms in association with emerging cardiovascular risk markers in adult women
20101025 Genetic variation in the folate metabolic pathway and risk of childhood leukemia
20111745 Gene-gene interactions in the folate metabolic pathway and the risk of conotruncal heart defects
20177420 Prediction of irinotecan and 5-fluorouracil toxicity and response in patients with advanced colorectal cancer
20385995 Pharmacogenetic assessment of toxicity and outcome in patients with metastatic colorectal cancer treated with LV5FU2, FOLFOX, and FOLFIRI: FFCD 2000-05
20417488 Association of fetal inflammation and coagulation pathway gene polymorphisms with neurodevelopmental delay at age 2 years
20472929 Folate pathway enzyme gene polymorphisms and the efficacy and toxicity of methotrexate in psoriatic arthritis
20523222 MTHFR genotype and differential evolution of metabolic parameters after initiation of a second generation antipsychotic: an observational study
20544798 Genetic and lifestyle variables associated with homocysteine concentrations and the distribution of folate derivatives in healthy premenopausal women
20556870 CLIA-tested genetic variants on commercial SNP arrays: potential for incidental findings in genome-wide association studies
20600216 Individual differences in arsenic metabolism and lung cancer in a case-control study in Cordoba, Argentina
20670920 Association of genetic variation in cystathionine-beta-synthase and arsenic metabolism
20692813 Gene-wide association study between the methylenetetrahydrofolate reductase gene (MTHFR) and schizophrenia in the Japanese population, with an updated meta-analysis on currently available data
20718043 Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome
20813848 Plasma vitamins B2, B6, and B12, and related genetic variants as predictors of colorectal cancer risk
20817226 MTHFR polymorphisms in relation to ovarian cancer risk
20935060 Genetic modifiers of carcinogen DNA adducts in target lung and peripheral blood mononuclear cells
20960050 Dietary methyl donors, methyl metabolizing enzymes, and epigenetic regulators: diet-gene interactions and promoter CpG island hypermethylation in colorectal cancer
20962791 Methylenetetrahydrofolate reductase gene polymorphisms and cerebral palsy in Chinese infants
21036793 Molecular pathological epidemiology of colorectal neoplasia: an emerging transdisciplinary and interdisciplinary field
21146954 Genes and abdominal aortic aneurysm
21178085 High intake of folate from food sources is associated with reduced risk of esophageal cancer in an Australian population
21204206 Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population
21210953 MTHFR polymorphisms and cognitive ageing in the ninth decade: the Lothian Birth Cohort 1921