Upload the DNA data file of the test

23andMe, AncestryDNA, FamilyTreeDNA, MyHeritage

and get an enhanced
personalized health report
free without registration

Files accepted .txt, .csv, .zip, .csv.gz

File data is not stored on the server

SNP information rs1801131

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