{{Rsnum
|rsid=1801131
|Gene=MTHFR
|Chromosome=1
|position=11794419
|Orientation=minus
|ReferenceAllele=A
|MissenseAllele=C
|GMAF=0.2277
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=MTHFR
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 43.4 | 45.1 | 11.5
| HCB | 64.2 | 33.6 | 2.2
| JPT | 64.6 | 33.6 | 1.8
| YRI | 76.2 | 23.1 | 0.7
| ASW | 64.9 | 33.3 | 1.8
| CHB | 64.2 | 33.6 | 2.2
| CHD | 65.1 | 27.5 | 7.3
| GIH | 38.6 | 45.5 | 15.8
| LWK | 68.2 | 27.3 | 4.5
| MEX | 63.8 | 31.0 | 5.2
| MKK | 56.4 | 35.3 | 8.3
| TSI | 51.0 | 36.3 | 12.7
| HapMapRevision=28
}}[[rs1801131]] is a SNP in the [[MTHFR]] gene, representing an A>C mutation at mRNA position 1298, resulting in a glu429-to-ala (E429A) substitution (hence this SNP is also known as A1298C or E429A).

A diplotype (according to the authors, but perhaps actually a [[genoset]]) of [[rs1801131]] and [[rs1801133]] has been linked to increased risk for several types of brain [[cancer]]. The highest risk of meningioma was associated with heterozygosity for both MTHFR SNPs (odds ratio 2.11, CI: 1.42-3.12, p=0.002). The corresponding odds ratio for glioma was 1.23 (CI: 0.91-1.66, p=0.02. In general, risks were increased with genotypes associated with reduced MTHFR activity.{{PMID|18483342}}

{{omim
|desc=MTHFR THERMOLABILE POLYMORPHISM
|id=607093
|rsnum=1801131
|variant=0004
}}

{{PMID Auto
|PMID=19336565
|Title=Folate Intake, Methylenetetrahydrofolate Reductase Polymorphisms, and Breast Cancer Risk in Women from the Malmo Diet and Cancer Cohort.
}}

{{PMID Auto
|PMID=19465420
|Title=MTHFR polymorphisms and 5-FU-based adjuvant chemotherapy in colorectal cancer
}}

{{PMID Auto
|PMID=19746410
|Title=Association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and age of onset in schizophrenia
}}
{{PMID Auto
|PMID=19759169
|Title=Increased breast cancer risk at high plasma folate concentrations among women with the MTHFR 677T allele
}}

{{PharmGKB
|RSID=rs1801131
|Name_s=MTHFR:1298A>C
|Gene_s=MTHFR
|Feature=Exon/NonSyn
|Evidence=PubMed ID:18580170
|Annotation=Risk or phenotype-associated allele(s): C/C. Phenotype:Patients with a homozygous MTHFR 1298A>C mutation (n = 25) developed higher plasma homocysteine concentrations (median [interquartile range], 14.9 [10.0-26.4] microm) than wild-type or heterozygous patients (9.3 [7.5-15.5] microm; n = 115). The change in homocysteine after nitrous oxide anesthesia was tripled in homozygous patients compared with wild-type (5.6 microm [+60%] vs. 1.8 microm [+22%]). Study size: 140. Study population/ethnicity: healthy patients undergoing elective surgery. Type of association: GN.
|Drugs=nitrous oxide
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA165110385
}}
{{PMID Auto
|PMID=20056627
|Title=Genetic variability in the MTHFR gene and colorectal cancer risk using the colorectal cancer family registry
|OA=1
}}

{{PMID Auto
|PMID=20523222
|Title=MTHFR genotype and differential evolution of metabolic parameters after initiation of a second generation antipsychotic: an observational study
}}
{{PMID Auto
|PMID=20817226
|Title=MTHFR polymorphisms in relation to ovarian cancer risk
|OA=1
}}
{{PMID Auto
|PMID=20863444
|Title=Associations between the genetic polymorphisms of MTHFR and outcomes of methotrexate treatment in rheumatoid arthritis
}}
{{PMID Auto
|PMID=20944139
|Title=Significant Association of Methylenetetrahydrofolate Reductase Single Nucleotide Polymorphisms with Prostate Cancer Susceptibility in Taiwan
}}

{{PharmGKB
|RSID=rs1801131
|Name_s=MTHFR:1298A>C
|Gene_s=MTHFR
|Feature=Exon/NonSyn
|Evidence=Web Resource:http://www.pharmgkb.org/search/annotatedGene/mthfr/variant.jsp
|Annotation=Well studied, associated with multiple phenotypes.
|Drugs=folic acid; methotrexate
|Drug Classes=
|Diseases=
|Curation Level=In-Depth
|PharmGKB Accession ID=PA161145164
}}

{{PharmGKB
|RSID=rs1801131
|Name_s=MTHFR:1298A>C; A1298C
|Gene_s=MTHFR
|Feature=Exon/NonSyn
|Evidence=PubMed ID:15643524
|Annotation=In a case control study of Asian gastric cancer (n=633), individuals with 6 variant alleles of three MTHFR common variants (i.e. C677T, A1298C and G1793A) were at increased risk for gastric cardia adenocarcinoma (OR =4.64, 95% CI =1.34-16.01) compared with those having 0-2 variants.
|Drugs=
|Drug Classes=
|Diseases=Stomach Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA164918206
}}

{{PharmGKB
|RSID=rs1801131
|Name_s=MTHFR:1298A>C
|Gene_s=MTHFR
|Feature=Exon/NonSyn
|Evidence=PubMed ID:16572443
|Annotation=At 6 months methotrexate and folic acid therapy, of early rheumatoid arthritis patients with the MTHFR 1298AA genotype showed good improvement relative to combined CA and AA genotypes (OR 2.3), while 1298C allele carriers developed more adverse drug events (OR 2.5) (e.g. pneumonitis, gastrointestinal ADEs, skin and mucosal ADEs, and elevated liver enzyme levels). Patients with MTHFR 1298AA / 677CC diplotype showed greater clinical improvement.
|Drugs=folic acid; methotrexate
|Drug Classes=
|Diseases=Arthritis, Rheumatoid
|Curation Level=Curated
|PharmGKB Accession ID=PA165106617
}}

{{PharmGKB
|RSID=rs1801131
|Name_s=MTHFR:298A>C
|Gene_s=MTHFR
|Feature=Exon/NonSyn
|Evidence=PubMed ID:19016697
|Annotation=In 330 patients who completed 3 months methotrexate treatment for psoriasis, no significant genotypic associations were found between clinical outcome (e.g. efficacy, toxicity) and 50 SNPs in pathway genes for methotrexate metabolism (ATIC, FPGS, GGH, MTHFR), including 47 common ( >5% minor allele frequency) haplotype-tagging SNPs (r(2) > 0.8) plus 3 additional SNPs.
|Drugs=folic acid; methotrexate
|Drug Classes=
|Diseases=Psoriasis
|Curation Level=Curated
|PharmGKB Accession ID=PA165106622
}}
{{PMID Auto
|PMID=21125565
|Title=Folate pathway and nonsyndromic cleft lip and palate
}}
{{PMID Auto
|PMID=21210953
|Title=MTHFR polymorphisms and cognitive ageing in the ninth decade: the Lothian Birth Cohort 1921
}}
{{PMID Auto
|PMID=21254359
|Title=Folate pathway and nonsyndromic cleft lip and palate
}}

{{PMID|21302350}} [[rs1801131]] shows no consistent association with schizophrenia overall in 12 studies totaling 3,000+ patients

{{PMID Auto
|PMID=21567207
|Title=Tetra primer ARMS-PCR relates folate/homocysteine pathway genes and ACE gene polymorphism with coronary artery disease
}}

{{PMID Auto
|PMID=22015309
|Title=MTHFR (677 and 1298) and IL-6-174 G/C genes in pathogenesis of Alzheimer's and vascular dementia and their epistatic interaction
}}

{{PMID Auto
|PMID=22041626
|Title=[Association of methylenetetrahydrofolate reductase A1298C polymorphisms with non-syndromic cleft lip with or without cleft palate]
}}

{{PMID Auto
|PMID=22044028
|Title=The C677T polymorphism in the MTHFR gene is associated with the toxicity of methotrexate in a Spanish rheumatoid arthritis population
}}

{{PMID Auto
|PMID=22116453
|Title=Folate and vitamin B12-related genes and risk for omphalocele
|OA=1
}}

{{PMID Auto
|PMID=22144047
|Title=A single-nucleotide polymorphism in the MTHFR (methylene tetrahydrofolate reductase) gene is associated with risk of radiation pneumonitis in lung cancer patients treated with thoracic radiation therapy
|OA=1
}}

{{PMID Auto
|PMID=22283972
|Title=C677T and A1298C Polymorphisms of MTHFR Gene and Their Relation to Homocysteine Levels in Turner Syndrome
|OA=1
}}

{{PMID Auto
|PMID=22707612
|Title=Genetic Risk Factors for Thrombosis in Systemic Lupus Erythematosus
|OA=1
}}

{{PMID Auto
|PMID=11781870
|Title=The frequent 5,10-methylenetetrahydrofolate reductase C677T polymorphism is associated with a common haplotype in whites, Japanese, and Africans.
|OA=1
}}

{{PMID Auto
|PMID=14724163
|Title=Analysis of candidate modifier loci for the severity of colonic familial adenomatous polyposis, with evidence for the importance of the N-acetyl transferases.
|OA=1
}}

{{PMID Auto
|PMID=16372906
|Title=Failure to confirm influence of methyltetrahydrofolate reductase (MTHFR) polymorphisms on age at onset of Huntington disease.
|OA=1
}}

{{PMID Auto
|PMID=16642433
|Title=Polymorphism in maternal LRP8 gene is associated with fetal growth.
|OA=1
}}

{{PMID Auto
|PMID=17035141
|Title=Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions.
|OA=1
}}

{{PMID Auto
|PMID=17119116
|Title=Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study.
|OA=1
}}

{{PMID Auto
|PMID=17301261
|Title=Dietary folate intake, MTHFR genetic polymorphisms, and the risk of endometrial cancer among Chinese women.
}}

{{PMID Auto
|PMID=17659576
|Title=Genetic polymorphisms in the methylenetetrahydrofolate reductase and thymidylate synthase genes and risk of hepatocellular carcinoma.
|OA=1
}}

{{PMID Auto
|PMID=17697348
|Title=Technology to accelerate pangenomic scanning for unknown point mutations in exonic sequences: cycling temperature capillary electrophoresis (CTCE).
|OA=1
}}

{{PMID Auto
|PMID=18098291
|Title=Folate metabolism genes, vegetable intake and renal cancer risk in central Europe.
}}

{{PMID Auto
|PMID=18182569
|Title=Pharmacogenetics of minimal residual disease response in children with B-precursor acute lymphoblastic leukemia: a report from the Children's Oncology Group.
|OA=1
}}

{{PMID Auto
|PMID=18191955
|Title=Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.
|OA=1
}}

{{PMID Auto
|PMID=18199722
|Title=Dietary vitamin B6 intake and the risk of colorectal cancer.
}}

{{PMID Auto
|PMID=18203168
|Title=Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts.
|OA=1
}}

{{PMID Auto
|PMID=18339682
|Title=Maternal and offspring genetic variants of AKR1C3 and the risk of childhood leukemia.
|OA=1
}}

{{PMID Auto
|PMID=18521744
|Title=BRCA1 promoter methylation is associated with increased mortality among women with breast cancer.
|OA=1
}}

{{PMID Auto
|PMID=18538037
|Title=A simple and accurate SNP scoring strategy based on typeIIS restriction endonuclease cleavage and matrix-assisted laser desorption/ionization mass spectrometry.
|OA=1
}}

{{PMID Auto
|PMID=18547414
|Title=Genotyping panel for assessing response to cancer chemotherapy.
|OA=1
}}

{{PMID Auto
|PMID=18603647
|Title=Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.
|OA=1
}}

{{PMID Auto
|PMID=18661527
|Title=Folate-related gene polymorphisms as risk factors for cleft lip and cleft palate.
|OA=1
}}

{{PMID Auto
|PMID=18669903
|Title=Green tea intake, MTHFR/TYMS genotype and breast cancer risk: the Singapore Chinese Health Study.
|OA=1
}}

{{PMID Auto
|PMID=18708404
|Title=B-vitamin intake, one-carbon metabolism, and survival in a population-based study of women with breast cancer.
|OA=1
}}

{{PMID Auto
|PMID=18708408
|Title=Vitamins B2, B6, and B12 and risk of new colorectal adenomas in a randomized trial of aspirin use and folic acid supplementation.
|OA=1
}}

{{PMID Auto
|PMID=18715757
|Title=Genetic associations with schizophrenia: meta-analyses of 12 candidate genes.
|OA=1
}}

{{PMID Auto
|PMID=18813964
|Title=Alzheimer's disease risk variants show association with cerebrospinal fluid amyloid beta.
|OA=1
}}

{{PMID Auto
|PMID=18842806
|Title=Associations between single nucleotide polymorphisms in folate uptake and metabolizing genes with blood folate, homocysteine, and DNA uracil concentrations.
|OA=1
}}

{{PMID Auto
|PMID=18922824
|Title=Genetic susceptibility to childhood leukaemia.
|OA=1
}}

{{PMID Auto
|PMID=18936436
|Title=Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
|OA=1
}}

{{PMID Auto
|PMID=18992148
|Title=Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study.
|OA=1
}}

{{PMID Auto
|PMID=19048631
|Title=Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study.
|OA=1
}}

{{PMID Auto
|PMID=19062539
|Title=[Genetic diversity and the structure of linkage disequilibrium in the methylenetetrahydrofolate reductase locus].
}}

{{PMID Auto
|PMID=19064578
|Title=No association of single nucleotide polymorphisms in one-carbon metabolism genes with prostate cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=19112534
|Title=Lack of association of polymorphisms in homocysteine metabolism genes with pseudoexfoliation syndrome and glaucoma.
|OA=1
}}

{{PMID Auto
|PMID=19190136
|Title=Association of thymidylate synthase gene with endometrial cancer risk in a Chinese population.
|OA=1
}}

{{PMID Auto
|PMID=19193698
|Title=Investigation of candidate polymorphisms and disease activity in rheumatoid arthritis patients on methotrexate.
|OA=1
}}

{{PMID Auto
|PMID=19272686
|Title=Effect of the MTHFR C677T and A1298C polymorphisms on survival in patients with advanced CKD and ESRD: a prospective study.
}}

{{PMID Auto
|PMID=19336559
|Title=Global DNA hypomethylation (LINE-1) in the normal colon and lifestyle characteristics and dietary and genetic factors.
|OA=1
}}

{{PMID Auto
|PMID=19376481
|Title=One-carbon metabolism and breast cancer: an epidemiological perspective.
|OA=1
}}

{{PMID Auto
|PMID=19421414
|Title=Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber's hereditary optic neuropathy.
|OA=1
}}

{{PMID Auto
|PMID=19427845
|Title=Diagnostic method validation: High resolution melting (HRM) of small amplicons genotyping for the most common variants in the MTHFR gene.
}}

{{PMID Auto
|PMID=19493349
|Title=118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.
|OA=1
}}

{{PMID Auto
|PMID=19538716
|Title=Thrombotic genetic risk factors and warfarin pharmacogenetic variants in Sao Miguel's healthy population (Azores).
|OA=1
}}

{{PMID Auto
|PMID=19591822
|Title=Prevalence of genetic thrombophilic polymorphisms in the Sri Lankan population--implications for association study design and clinical genetic testing services.
}}

{{PMID Auto
|PMID=19657388
|Title=Lack of association between genetic polymorphisms in enzymes associated with folate metabolism and unexplained reduced sperm counts.
|OA=1
}}

{{PMID Auto
|PMID=19700502
|Title=Synopsis and synthesis of candidate-gene association studies in chronic lymphocytic leukemia: the CUMAGAS-CLL information system.
}}

{{PMID Auto
|PMID=19706843
|Title=Alcohol consumption and genetic variation in methylenetetrahydrofolate reductase and 5-methyltetrahydrofolate-homocysteine methyltransferase in relation to breast cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=19706844
|Title=Association of folate-pathway gene polymorphisms with the risk of prostate cancer: a population-based nested case-control study, systematic review, and meta-analysis.
}}

{{PMID Auto
|PMID=19760026
|Title=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.
}}

{{PMID Auto
|PMID=19776626
|Title=Polymorphisms in methionine synthase, methionine synthase reductase and serine hydroxymethyltransferase, folate and alcohol intake, and colon cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=19936946
|Title=Germline polymorphisms in the one-carbon metabolism pathway and DNA methylation in colorectal cancer.
|OA=1
}}

{{PMID Auto
|PMID=20065319
|Title=Interaction of methylenetetrahydrofolate reductase genotype and smoking habit in Taiwanese lung cancer patients.
}}

{{PMID Auto
|PMID=20078877
|Title=Gene polymorphisms in association with emerging cardiovascular risk markers in adult women.
|OA=1
}}

{{PMID Auto
|PMID=20111745
|Title=Gene-gene interactions in the folate metabolic pathway and the risk of conotruncal heart defects.
|OA=1
}}

{{PMID Auto
|PMID=20472929
|Title=Folate pathway enzyme gene polymorphisms and the efficacy and toxicity of methotrexate in psoriatic arthritis.
}}

{{PMID Auto
|PMID=20692813
|Title=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.
}}

{{PMID Auto
|PMID=20962791
|Title=Methylenetetrahydrofolate reductase gene polymorphisms and cerebral palsy in Chinese infants.
}}

{{PMID Auto
|PMID=21211571
|Title=MTHFR and MTRR genotype and haplotype analysis and colorectal cancer susceptibility in a case-control study from the Czech Republic.
}}

{{PMID Auto
|PMID=21255267
|Title=MTHFR polymorphisms and cognitive ageing in the ninth decade: the Lothian Birth Cohort 1921.
}}

{{PMID Auto
|PMID=21343546
|Title=Phase II trial of pemetrexed and bevacizumab in patients with recurrent or metastatic head and neck cancer.
|OA=1
}}

{{PMID Auto
|PMID=21347786
|Title=DNA repair gene and MTHFR gene polymorphisms as prognostic markers in locally advanced adenocarcinoma of the esophagus or stomach treated with cisplatin and 5-fluorouracil-based neoadjuvant chemotherapy.
}}

{{PMID Auto
|PMID=21362212
|Title=[Detection of single nucleotide polymorphisms of mthfr and dpyd genes in leukemia cell lines K562 and K562/A02].
}}

{{PMID Auto
|PMID=21461582
|Title=Lack of association between methylenetetrahydrofolate reductase genetic polymorphisms and postmenopausal breast cancer risk.
}}

{{PMID Auto
|PMID=21819229
|Title=Methylenetetrahydrofolate reductase gene polymorphisms in Turkish children with attention-deficit/hyperactivity disorder.
}}

{{PMID Auto
|PMID=21931346
|Title=MTHFR gene polymorphisms and outcome of methotrexate treatment in patients with rheumatoid arthritis: analysis of key polymorphisms and meta-analysis of C677T and A1298C polymorphisms.
}}

{{PMID Auto
|PMID=22175540
|Title=Association of the methylenetetrahydrofolate reductase gene A1298C polymorphism with male infertility: a meta-analysis.
}}

{{PMID Auto
|PMID=22495907
|Title=Gene variants in the folate-mediated one-carbon metabolism (FOCM) pathway as risk factors for conotruncal heart defects.
|OA=1
}}

{{PMID Auto
|PMID=22540831
|Title=Candidate gene study of genetic thrombophilic polymorphisms in pre-eclampsia and recurrent pregnancy loss in Sinhalese women.
}}

{{GET Evidence
|gene=MTHFR
|aa_change=Glu429Ala
|aa_change_short=E429A
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1801131
|overall_frequency_n=2748
|overall_frequency_d=10758
|overall_frequency=0.255438
|n_genomes=17
|n_genomes_annotated=0
|n_haplomes=20
|n_articles=4
|n_articles_annotated=4
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|in_pharmgkb=Y
|pph2_score=0.099
|genetests_testable=Y
|nblosum100=3
|autoscore=3
|webscore=N
|n_web_uneval=10
}}

{{PMID Auto
|PMID=22833659
|Title=Gender and single nucleotide polymorphisms in MTHFR, BHMT, SPTLC1, CRBP2, CETP, and SCARB1 are significant predictors of plasma homocysteine normalized by RBC folate in healthy adults
|OA=1
}}

{{PMID Auto
|PMID=23391848
|Title=OLR1 , PON1 and MTHFR Gene Polymorphisms, Conventional Risk Factors and the Severity of Coronary Atherosclerosis in a Chinese Han Population
}}

{{PMID Auto
|PMID=22957669
|Title=Association of dietary and genetic factors related to one-carbon metabolism with global methylation level of leukocyte DNA
}}

{{PMID Auto
|PMID=23652803
|Title=Germline genetic variations in methotrexate candidate genes are associated with pharmacokinetics, toxicity and outcome in childhood acute lymphoblastic leukemia
}}

{{PMID Auto
|PMID=23450474
|Title=[Influence of methylenetetrahydrofolate reductase gene polymorphisms on antidepressant response]
}}

{{ClinVar
|ALT=G
|CAF=0.7723; 0.2277
|CHROM=1
|CLNACC=RCV000003698.1; RCV000003699.1
|CLNALLE=1
|CLNDBN=MTHFR deficiency, thermolabile type; Schizophrenia, susceptibility to
|CLNDSDB=MedGen
|CLNDSDBID=C1856059
|CLNHGVS=NC_000001.11:g.11794419T>G
|CLNSIG=255
|CLNSRC=ClinVar; GTR; OMIM Allelic Variant
|CLNSRCID=NM_005957.4:c.1286A>C; GTR000500035; 607093.0004
|COMMON=1
|Disease=MTHFR deficiency; Schizophrenia
|FwdALT=C
|FwdREF=A
|GENEINFO=MTHFR:4524
|GENE_ID=4524
|GENE_NAME=MTHFR
|REF=T
|RSPOS=11794419
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;TPA;PMC;SLO;NSM;REF;ASP;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|VC=SNV
|VP=0x050178000a0517051f110101
|WGT=1
|dbSNPBuildID=89
|rsid=1801131
|CLNORIGIN=1
}}

{{PMID Auto
|PMID=23401104
|Title=Folate-genetics and colorectal neoplasia: what we know and need to know next
}}

{{PMID Auto
|PMID=24380661
|Title=MTHFR C677T and A1298C polymorphisms and risk of nonsyndromic orofacial clefts in a south Indian population
}}

{{PMID Auto
|PMID=23484733
|Title=Association between polymorphisms in genes encoding methylenetetrahydrofolate reductase and the risk of Ménière's disease
}}

{{PMID Auto
|PMID=22021659
|Title=Genetic variation throughout the folate metabolic pathway influences negative symptom severity in schizophrenia.
|OA=1
}}

{{PMID Auto
|PMID=22052259
|Title=MTHFR polymorphisms, folate intake and carcinogen DNA adducts in the lung.
|OA=1
}}

{{PMID Auto
|PMID=22706675
|Title=Folic acid supplementation, MTHFR and MTRR polymorphisms, and the risk of childhood leukemia: the ESCALE study (SFCE).
}}

{{PMID Auto
|PMID=22847291
|Title=Population distribution of methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C risk alleles for methotrexate toxicity in Israel.
}}

{{PMID Auto
|PMID=22890010
|Title=Association of COMT, MTHFR, and SLC19A1(RFC-1) polymorphisms with homocysteine blood levels and cognitive impairment in Parkinson's disease.
}}

{{PMID Auto
|PMID=22903727
|Title=Maternal and infant gene-folate interactions and the risk of neural tube defects.
|OA=1
}}

{{PMID Auto
|PMID=23175176
|Title=Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.
}}

{{PMID Auto
|PMID=25075036
|Title=Evaluation of the Contribution of Methylenetetrahydrofolate Reductase Genotypes to Taiwan Breast Cancer
}}

{{PMID Auto
|PMID=25074646
|Title=Associations of Common Variants in Methionine Metabolism Pathway Genes with Plasma Homocysteine and the Risk of Type 2 Diabetes in Han Chinese
}}

{{PMID Auto
|PMID=24274352
|Title=Green tea consumption and breast cancer risk in Japanese women: a case-control study
}}

{{PMID Auto
|PMID=25246760
|Title=Plasma homocysteine and genetic variants of homocysteine metabolism enzymes in patients from central Greece with primary open-angle glaucoma and pseudoexfoliation glaucoma
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}