{{Rsnum
|rsid=1801133
|Gene=MTHFR
|Chromosome=1
|position=11796321
|Orientation=minus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.3246
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Summary=elevated homocysteine levels
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=MTHFR
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 46.9 | 44.2 | 8.8
| HCB | 27.7 | 47.4 | 24.8
| JPT | 37.2 | 47.8 | 15.0
| YRI | 82.3 | 17.7 | 0.0
| ASW | 82.5 | 10.5 | 7.0
| CHB | 27.7 | 47.4 | 24.8
| CHD | 45.9 | 42.2 | 11.9
| GIH | 69.3 | 28.7 | 2.0
| LWK | 82.7 | 17.3 | 0.0
| MEX | 34.5 | 50.0 | 15.5
| MKK | 84.0 | 15.4 | 0.6
| TSI | 31.7 | 42.6 | 25.7
| HapMapRevision=28
}}[[rs1801133]] is a SNP that is relatively common and has been studied for (relatively) a long time. Also known as C677T, Ala222Val, and A222V, it encodes a variant in the [[MTHFR]] gene, which encodes an enzyme involved in [[folate]] [[drug metabolism|metabolism]]. 

Homozygous [[rs1801133(T;T)]] individuals have ~30% of the expected MTHFR enzyme activity, and [[rs1801133]](C;T) heterozygotes have ~65% activity, compared to the most common genotype, [[rs1801133]](C;C). 

This reduced activity (i.e. this SNP) has been linked at least once to each of the following disorders (though not necessarily reproducibly):

* [[autism]]
* [[cancer]], including
** [[gastric cancer]]
** [[lung cancer]]
** [[head and neck cancer]]
** [[renal cancer]]
* [[cleft lip]] and [[cleft palate]]
* [[coronary artery disease]]
* [[dementia]]
* [[depression]]
* [[hyperhomocysteinemia]]
* [[migraine]]
* [[neural tube defects]]
* [[pre-eclampsia]] (gestational [[hypertension]])
* [[schizophrenia]]
* [[thrombosis]]
* [[down syndrome]]

PubMed lists over 2,300 studies linking Rs1801133 to a long list of disorders in various populations across the world, of which only some are mentioned above. Considering the central role of MTHFR in folate metabolism and in control of homocysteine levels this is not surprising. A nice summary of the pathological significance of elevated homocysteine levels could be found in this [http://www.lef.org/protocols/heart_circulatory/homocysteine_reduction_01.htm] article. 

With regard to [[gastric cancer]], a meta-analysis combining 16 studies and ~2,700 patients concluded that the increased risk (odds ratio) associated with [[rs1801133]] (T;T) and (C;T) genotypes, was 1.52 (CI 1.31-1.77) and 1.17 (CI 0.99-1.39), respectively, compared to the (C;C) genotype. Roughly the same risks were seen for Caucasians and Asians. Smoking and having low folate levels (presumably from diets low in fruits and veggies) increased the risk for (T;T) individuals from ~1.5x to ~2x, whereas having high folate levels almost reduced the risk for (T;T) genotypes pretty much down to the (C;C) level, ie. the average risk. {{PMID|18162478}}

Another meta-analysis of three studies on [[rs1801133]] stratified according to dietary folate intake showed an increased risk for individuals with low folate intake (OR=1.37, CI: 0.92-2.06 for head and neck cancer and OR=1.28, CI: 0.97-1.68 for lung) versus high folate intake (OR=0.85, CI: 0.63-1.16 for head and neck cancer, and OR=0.94, CI: 0.79-1.12 for lung).{{PMID|18789576}}

[[rs1801131]] and [[rs1801133]] have 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}}

Based on a study of 25,000 Caucasian women followed for 11 years (on average), the [[rs1801133]](T;T) genotype individual was less likely to have migraine with aura (odds ratio 0.79, CI: 0.65-0.9 6, p = 0.02) and did not have increased risk for cardiovascular disease. However, if a (T;T) genotype did have migraine with aura, then the risk for cardiovascular disease was increased 3.66 fold (CI: 1.69-7.90, p = 0.001). This was apparently driven by a 4x increased risk for ischemic stroke (multivariable-adjusted relative risk 4.19, CI: 1.38-12.74, p = 0.01).{{PMID|18672474|OA=1
}}

A study of 677 patients with [[end-stage renal disease]] (ESRD) concluded that the adjusted hazard ratio for mortality in all patients was 2.27 (CI: 1.07 - 4.84, p = 0.03) for [[rs1801133]](T;T) homozygotes, in other words, they died at about twice the rate of the other 2 genotypes over the time course of this study.{{PMID|19272686}}

In a case-control study of 152 cases (men) and 304 age-matched healthy controls conducted in one geographical area of Iran, evidence was seen that the MTHFR polymorphisms might contribute to increased clear cell renal cell carcinoma (CCRCC) risk in men. After controlling for confounding factors, a significant increase in CCRCC risk was found among carriers of the 677CT genotype compared with those with the 677CC genotype (odds ratio 2.21, 95% confidence interval 1.31-3.76), with a significant trend (P=0.014). Statistically significant odds ratios were also found in patients homozygous for MTHFR C677T, who have a 1.58-fold higher risk of developing CCRCC (95% confidence interval=1.21-2.44; P=0.024). Compared with the MTHFR 677CC genotype, the odds ratio (95% confidence interval) for the MTHFR 677TT genotype was 6.18 (95% confidence interval=4.75-8.34) for stage IV cancer and 4.68 (95% confidence interval=2.72-6.54) for grade 3 CCRCC (both P=0.0001). Clin Oncol (R Coll Radiol). 2012 May;24(4):269-81. doi: 10.1016/j.clon.2011.03.005. Epub 2011 Apr 13. {{PMID|21489764}}

{{PMID|19648163|OA=1
}} A 2-year follow-up study of 122 newly diagnosed patients with [[acute lymphoblastic leukemia]] (ALL) found that carriers of a [[rs1801133]](T) allele were at increased risk for hepatic toxicity from [[methotrexate]] treatment. Hepatic toxicity was increased ~2x and ~5x for heterozygous and homozygous [[rs1801133]](T) genotypes, respectively (p=0.028). If a carrier of a [[rs1801133]](T) allele was also a carrier of a [[rs70991108]] deletion allele, the risk for hepatic toxicity was even higher (odds ratio 6.8, p=0.018).

'''Note:''' Another SNP in dbSNP, [[rs59514310]], represents the same location as [[rs1801133]]. 

[http://yannklimentidis.blogspot.com/2008/02/mthfr-gene-with-big-bad-name.html blog] The MTHFR gene polymorphism is associated with lean body mass but not fat body mass

{{doi|10.1007/s00223-010-9361-4}} [[rs1801133]](T;T) post-menopausal women said to be at 2x higher risk for [[osteoporosis]].

{{PMID Auto
|PMID=19332210
|Title=Candidate genetic variants in the fibrinogen, methylenetetrahydrofolate reductase, and intercellular adhesion molecule-1 genes and plasma levels of fibrinogen, homocysteine, and intercellular adhesion molecule-1 among various race/ethnic groups: Data from the Women's Genome Health Study
|OA=1
}}
{{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=19493349
|Title=118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects
|OA=1
}}

{{PMID Auto
|PMID=19737740
|Title=Associations of folate and choline metabolism gene polymorphisms with orofacial clefts
}}
{{PMID Auto
|PMID=19746410
|Title=Association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and age of onset in schizophrenia
}}
{{PMID Auto
|PMID=19744961
|Title=Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway
|OA=1
}}
{{PMID Auto
|PMID=19759169
|Title=Increased breast cancer risk at high plasma folate concentrations among women with the MTHFR 677T allele
}}

{{PharmGKB
|RSID=rs1801133
|Name_s=MTHFR:677C>T
|Gene_s=MTHFR, CLCN6
|Feature=Exon/NonSyn, NA
|Evidence=PubMed ID:18580170
|Annotation=Risk or phenotype-associated allele(s): T/T. Phenotype:Patients with a homozygous MTHFR 677C>T 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=PA165110386
}}
{{PMID Auto
|PMID=20031128
|Title=Cardiorespiratory fitness modifies the association between the UCP3-55C&gt;T (rs1800849) polymorphism and plasma homocysteine in Swedish youth
}}
{{PMID Auto GWAS
|PMID=20031578
|Trait=Plasma homocysteine
|Title=Novel Associations of CPS1, MUT, NOX4, and DPEP1 With Plasma Homocysteine in a Healthy Population: A Genome-Wide Evaluation of 13 974 Participants in the Women's Genome Health Study
|RiskAllele=A
|Pval=8E-35
|OR=0.05
|ORtxt=[NR] unit increase in log(homocysteine)
|OA=1
}}
{{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=20154341
|Title=Genome-wide association study of homocysteine levels in Filipinos provides evidence for CPS1 n women and a stronger MTHFR effect in young adults
|OA=1
}}

{{PMID Auto
|PMID=20421849
|Title=Habituation in prepulse inhibition is affected by a polymorphism on the NMDA receptor 2B subunit gene (GRIN2B)
}}
{{PMID Auto
|PMID=19593234
|Title=Association analyses suggest multiple interaction effects of the methylenetetrahydrofolate reductase polymorphisms on timing of menarche and natural menopause in white women
|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
}}
{{PMID Auto
|PMID=20946434
|Title=MTHFR 677C&gt;T Polymorphism and Cluster Headache
}}

{{omim
|id=607093
|desc=5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR
|rsnum=1801133
}}

{{PharmGKB
|RSID=rs1801133
|Name_s=MTHFR:677C>T
|Gene_s=MTHFR, CLCN6
|Feature=Exon/NonSyn, NA
|Evidence=Web Resource:http://www.pharmgkb.org/search/annotatedGene/mthfr/variant.jsp#ImportantVariantInformationforMTHFR-677CT
|Annotation=Well studied, associated with multiple phenotypes.
|Drugs=fluorouracil; folic acid; methotrexate
|Drug Classes=
|Diseases=
|Curation Level=In-Depth
|PharmGKB Accession ID=PA161145165
}}

{{PharmGKB
|RSID=rs1801133
|Name_s=MTHFR: 677 C > T
|Gene_s=MTHFR, CLCN6
|Feature=Exon/NonSyn, NA
|Evidence=PubMed ID:17488658
|Annotation=This variant is associated with methotrexated-induced mucositis, thrombocytopenia and hepatic toxicity
|Drugs=methotrexate
|Drug Classes=
|Diseases=Drug Toxicity; Thrombocytopenia
|Curation Level=Curated
|PharmGKB Accession ID=PA162316602
}}

{{PharmGKB
|RSID=rs1801133
|Name_s=MTHFR: 677 C > T
|Gene_s=MTHFR, CLCN6
|Feature=Exon/NonSyn, NA
|Evidence=PubMed ID:18381794
|Annotation=This variant is associated with methotrexated-induced alopecia in African Americans with rheumatoid arthritis.
|Drugs=methotrexate
|Drug Classes=
|Diseases=Alopecia; Arthritis, Rheumatoid; Drug Toxicity
|Curation Level=Curated
|PharmGKB Accession ID=PA162316601
}}

{{PharmGKB
|RSID=rs1801133
|Name_s=MTHFR: c.677C>T; 677C>T; p.A222V; A222V
|Gene_s=MTHFR, CLCN6
|Feature=Exon/NonSyn, NA
|Evidence=PubMed ID:19581920
|Annotation=This variant protein has reduced catalytic activity and thermolability, and is thus associated with elevated homocysteine levels under conditions of impaired folate status.
|Drugs=
|Drug Classes=
|Diseases=Breast Neoplasms; Colorectal Neoplasms; Heart Diseases; Psychophysiologic Disorders
|Curation Level=Curated
|PharmGKB Accession ID=PA164920416
}}

{{PharmGKB
|RSID=rs1801133
|Name_s=MTHFR:677T>C
|Gene_s=MTHFR, CLCN6
|Feature=Exon/NonSyn, NA
|Evidence=PubMed ID:19303062
|Annotation=The T allele of this SNP was found to be associated with higher blood concentration of homocysteine in Italians (Combined studies of Tuscan Italians ( inCHIANTI:N =1175 and Progetto Nutrizione study:N = 687) and Sardinians (SardiNIA: N=1115)) but not in the BLSA cohort (from Baltimore-Washington DC). The study authors inferred that this was related to U.S. food fortification and hence higher folate status.
|Drugs=
|Drug Classes=
|Diseases=Coronary Disease; Neurologic Manifestations; Stroke
|Curation Level=Curated
|PharmGKB Accession ID=PA164918288
}}

{{PharmGKB
|RSID=rs1801133
|Name_s=MTHFR:677C>T; C677T
|Gene_s=MTHFR, CLCN6
|Feature=Exon/NonSyn, NA
|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=PA164918205
}}

{{PharmGKB
|RSID=rs1801133
|Name_s=MTHFR:677C>T, MTHFR:665C>T (dbSNP Build 130), (Ala222Val)
|Gene_s=MTHFR, CLCN6
|Feature=Exon/NonSyn, NA
|Evidence=PubMed ID:12915598
|Annotation=In 53 newly diagnosed patients with childhood acute lymphoblastic leukemia who were treated with two courses of high-dose methotrexate (MTX), no association was found between MTX-induced increases in plasma or cerebrospinal fluid homocysteine levels or MTX-induced toxicity (seizures or thrombosis) based upon the MTHFR 677C>T or RFC (SLC19A1) 80G>A genotypes.
|Drugs=methotrexate
|Drug Classes=
|Diseases=Leukemia; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
|Curation Level=Curated
|PharmGKB Accession ID=PA165106866
}}

{{PharmGKB
|RSID=rs1801133
|Name_s=MTHFR:677C>T, MTHFR:665C>T (dbSNP Build 130), (Ala222Val)
|Gene_s=MTHFR, CLCN6
|Feature=Exon/NonSyn, NA
|Evidence=PubMed ID:11418485
|Annotation=In patients with chronic myelogenous leukemia undergoing bone marrow transplantation and taking methotrexate, carriers of the MTHFR 677TT genotype versus CT and CC genotypes showed significantly greater post-allograft drug-induced toxicity in the form of oral mucositis (p=0.046), and a non-significant trend toward slower platelet recovery.
|Drugs=methotrexate
|Drug Classes=
|Diseases=Leukemia; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Transplantation
|Curation Level=Curated
|PharmGKB Accession ID=PA165106864
}}

{{PharmGKB
|RSID=rs1801133
|Name_s=MTHFR:677C/T; MTHFR:677C>T
|Gene_s=MTHFR, CLCN6
|Feature=Exon/NonSyn, NA
|Evidence=PubMed ID:17976958
|Annotation=Risk or phenotype-associated allele: T. Phenotype: 53% of T allele carriers met metabolic syndrome criteria, compared with 23% in the CC genotype group. Study size: 58. Study population/ethnicity: Individuals with schizophrenia receiving atypical antipsychotics (AAPs) for 12 or more months. Over 85% of the subjects were Caucasian. Significance metric(s): OR = 3.7; p = 0.02. Type of association: CO.
|Drugs=
|Drug Classes=ANTIPSYCHOTICS
|Diseases=Insulin Resistance; metabolic syndrome
|Curation Level=Curated
|PharmGKB Accession ID=PA165108052
}}

{{PharmGKB
|RSID=rs1801133
|Name_s=MTHFR:677C/T; MTHFR:677C>T
|Gene_s=MTHFR, CLCN6
|Feature=Exon/NonSyn, NA
|Evidence=PubMed ID:17976958
|Annotation=Risk or phenotype-associated allele: T. Phenotype: Both waist circumference and the MTHFR genotype were significant factors associated with insulin resistance. Study size: 58. Study population/ethnicity: Individuals with schizophrenia receiving atypical antipsychotics (AAPs) for 12 or more months. Over 85% of the subjects were Caucasian. Significance metric(s): p < 0.0001. Type of association: CO.
|Drugs=
|Drug Classes=ANTIPSYCHOTICS
|Diseases=Insulin Resistance; metabolic syndrome
|Curation Level=Curated
|PharmGKB Accession ID=PA165108053
}}

{{PharmGKB
|RSID=rs1801133
|Name_s=MTHFR:677C>T, MTHFR:665C>T (dbSNP Build 130), (Ala222Val)
|Gene_s=MTHFR, CLCN6
|Feature=Exon/NonSyn, NA
|Evidence=PubMed ID:11710708
|Annotation=MTHFR rs1801133, 667CT or 667TT genotypes were associated with an increased risk of methotrexate treatment discontinuation due to adverse events (relative risk 2.01), mostly as a result of increased risk of elevated levels of liver enzyme alanine aminotransferase (relative risk 2.38) in rheumatoid arthritis patients.
|Drugs=methotrexate
|Drug Classes=
|Diseases=Arthritis, Rheumatoid
|Curation Level=Curated
|PharmGKB Accession ID=PA165106826
}}

{{PharmGKB
|RSID=rs1801133
|Name_s=MTHFR:677C>T, MTHFR:665C>T (dbSNP Build 130), (Ala222Val)
|Gene_s=MTHFR, CLCN6
|Feature=Exon/NonSyn, NA
|Evidence=PubMed ID:12453860
|Annotation=In a retrospective analysis of 61 Italian patients experiencing methotrexate toxicity during treatment for acute lymphoblastic leukemia or acute promyelocytic leukemia, carriers of the MTHFR 677TT genotype (60%) showed significantly greater drug-induced toxicity (p=0.03) compared to CC and CT genotypes.
|Drugs=methotrexate
|Drug Classes=
|Diseases=Leukemia; Leukemia, Promyelocytic, Acute; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
|Curation Level=Curated
|PharmGKB Accession ID=PA165106865
}}

{{PharmGKB
|RSID=rs1801133
|Name_s=MTHFR:677C>T, 665C>T (dbSNP Build 130), (Ala222Val)
|Gene_s=MTHFR, CLCN6
|Feature=Exon/NonSyn, NA
|Evidence=PubMed ID:11710708
|Annotation=Risk or phenotype-associated allele: CT and TT genotypes. Phenotype: The 677 CT or TT genotypes were associated with greater incidence of discontinuation of methorexate treatment because of adverse events, mainly due to elevation of liver enzymes. Study size: 236. Study population/ethnicity: Patients who started methorexate treatment with (n = 157) or without (n = 79) folic or folinic acid supplementation for rheumatoid arthritis. Significance metric(s): RR = 2.01 Type of association: CO, GN.
|Drugs=methotrexate
|Drug Classes=
|Diseases=Arthritis, Rheumatoid
|Curation Level=Curated
|PharmGKB Accession ID=PA165109580
}}

{{PharmGKB
|RSID=rs1801133
|Name_s=MTHFR:677C>T
|Gene_s=MTHFR, CLCN6
|Feature=Exon/NonSyn, NA
|Evidence=PubMed ID:19005482
|Annotation=Risk or phenotype-associated allele: T. Phenotype: MTHFR:677T genotype in the transplant recipient was associated with acute graft vs host disease. Study size:107 . Study population/ethnicity: Donors and patients with leukemia after HLA-identical hematopoietic stem cell transplantation, France. Significance metric(s): p = 0.03. Type of association: CO
|Drugs=
|Drug Classes=
|Diseases=Graft vs Host Disease
|Curation Level=Curated
|PharmGKB Accession ID=PA165282249
}}

{{PharmGKB
|RSID=rs1801133
|Name_s=MTHFR:677C>T
|Gene_s=MTHFR, CLCN6
|Feature=Exon/NonSyn, NA
|Evidence=PubMed ID:16572443
|Annotation=Given methotrexate and folic acid therapy, patients with the MTHFR 1298AA / 677CC diplotype showed greater clinical improvement for early rheumatoid arthritis.
|Drugs=folic acid; methotrexate
|Drug Classes=
|Diseases=Arthritis, Rheumatoid
|Curation Level=Curated
|PharmGKB Accession ID=PA165106616
}}

{{PharmGKB
|RSID=rs1801133
|Name_s=MTHFR:667C>T
|Gene_s=MTHFR, CLCN6
|Feature=Exon/NonSyn, NA
|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=PA165106621
}}

{{PMID|10930360|OA=1
}} MTHFR 677C→T polymorphism is more prevalent among mothers of children with Down syndrome than among control mothers, with an odds ratio of 1.91

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|20692813}}
{{PMID Auto
|PMID=21125565
|Title=Folate pathway and nonsyndromic cleft lip and palate
}}
{{PMID Auto
|PMID=21178087
|Title=Polymorphisms in Serine Hydroxymethyltransferase 1 and Methylenetetrahydrofolate Reductase Interact to Increase Cardiovascular Disease Risk in Humans
|OA=1
}}
{{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 Auto
|PMID=21291465
|Title=The association of genetic polymorphisms with cerebral palsy: a meta-analysis
}}

{{PMID|21302350}} [[rs1801133]] shows no consistent association with schizophrenia overall in 12 studies totaling 3,000+ patients

{{omim
|id=607093
|rsnum=1801133
|variant=0003
}}

{{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=21635773
|Title=Methylenetetrahydrofolate Reductase Gene Variant (MTHFR C677T) and Migraine: A Case Control Study and Meta-analysis
|OA=1
}}

{{PMID Auto
|PMID=21980405
|Title=A Hypomethylating Variant of MTHFR, 677C&gt;T, Blunts the Neural Response to Errors in Patients with Schizophrenia and Healthy Individuals
|OA=1
}}

{{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=21429654
|Title=Polymorphic variants of folate and choline metabolism genes and the risk of endometriosis-associated infertility
}}

{{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=22103680
|Title=Folate network genetic variation, plasma homocysteine, and global genomic methylation content: a genetic association study
|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=21913742
|Title=Genetic predictors of response to photodynamictherapy
}}

{{PMID Auto
|PMID=22440940
|Title=The rs1801133 polymorphism of methylenetetrahydrofolate reductase gene- the association with 5-year survival in patients with ST-elevation myocardial infarction
}}

{{PMID Auto
|PMID=22363213
|Title=Homocysteine and Coronary Heart Disease: Meta-analysis of MTHFR Case-Control Studies, Avoiding Publication Bias
|OA=1
}}

{{PMID Auto
|PMID=22457816
|Title=Association of the MTHFR A1298C Variant with Unexplained Severe Male Infertility
|OA=1
}}

{{PMID Auto
|PMID=22649255
|Title=Folate Network Genetic Variation Predicts Cardiovascular Disease Risk in Non-Hispanic White Males
|OA=1
}}

{{PMID Auto
|PMID=22648968
|Title=Risk of retinoblastoma is associated with a maternal polymorphism in dihydrofolatereductase (DHFR) and prenatal folic acid intake
|OA=1
}}

{{PMID Auto
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|Title=Association of PHB 1630 C&gt;T and MTHFR 677 C&gt;T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study
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}}

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

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

{{PMID Auto
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|Title=A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group.
|OA=1
}}

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

{{PMID Auto
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|Title=Comparison of PrASE and Pyrosequencing for SNP Genotyping.
|OA=1
}}

{{PMID Auto
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|Title=MTHFR polymorphism and bone mineral density: meta-analysis of published studies.
}}

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

{{PMID Auto
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|Title=Genetic studies of a cluster of acute lymphoblastic leukemia cases in Churchill County, Nevada.
|OA=1
}}

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

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

{{PMID Auto
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|Title=MTHFR C677T polymorphism and osteoporotic fractures.
}}

{{PMID Auto
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|Title=Genome-wide association with bone mass and geometry in the Framingham Heart Study.
|OA=1
}}

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

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

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

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

{{PMID Auto
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|Title=Association of polymorphisms in one-carbon metabolizing genes and lung cancer risk: a case-control study in Chinese population.
}}

{{PMID Auto
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|Title=Choline metabolism and risk of breast cancer in a population-based study.
|OA=1
}}

{{PMID Auto
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|OA=1
}}

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

{{PMID Auto
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|Title=The methylenetetrahydrofolate reductase 677C>T gene polymorphism is not associated with chronic plaque psoriasis.
}}

{{PMID Auto
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|OA=1
}}

{{PMID Auto
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|Title=New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.
|OA=1
}}

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

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

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

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

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

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

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

{{PMID Auto
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|OA=1
}}

{{PMID Auto
|PMID=18787887
|Title=Genetic variation in candidate osteoporosis genes, bone mineral density, and fracture risk: the study of osteoporotic fractures.
|OA=1
}}

{{PMID Auto
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|Title=Assessment of Alzheimer's disease case-control associations using family-based methods.
|OA=1
}}

{{PMID Auto
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|OA=1
}}

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

{{PMID Auto
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|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=18988738
|Title=MTHFR 677C --> T genotype disrupts prefrontal function in schizophrenia through an interaction with COMT 158Val --> Met.
|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
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|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
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|Title=A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
|OA=1
}}

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

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

{{PMID Auto
|PMID=19263529
|Title=Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.
|OA=1
}}

{{PMID Auto
|PMID=19330901
|Title=Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.
|OA=1
}}

{{PMID Auto
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|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
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|Title=Multiple osteoporosis susceptibility genes on chromosome 1p36 in Chinese.
}}

{{PMID Auto
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|Title=Identification of ZNF366 and PTPRD as novel determinants of plasma homocysteine in a family-based genome-wide association study.
|OA=1
}}

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

{{PMID Auto
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|OA=1
}}

{{PMID Auto
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|OA=1
}}

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

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

{{PMID Auto
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|Title=Executive function, neural circuitry, and genetic mechanisms in schizophrenia.
|OA=1
}}

{{PMID Auto
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|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=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=19808787
|Title=Genetics of human neural tube defects.
|OA=1
}}

{{PMID Auto
|PMID=19822020
|Title=Genetic factors associated with intestinal metaplasia in a high risk Singapore-Chinese population: a cohort study.
|OA=1
}}

{{PMID Auto
|PMID=19841454
|Title=Collaborative meta-analysis: associations of 150 candidate genes with osteoporosis and osteoporotic fracture.
|OA=1
}}

{{PMID Auto
|PMID=19911060
|Title=Persistence criteria for susceptibility genes for schizophrenia: a discussion from an evolutionary viewpoint.
|OA=1
}}

{{PMID Auto
|PMID=19930673
|Title=Association between the methylenetetrahydrofolate reductase C677T polymorphism and hepatocellular carcinoma risk: a meta-analysis.
|OA=1
}}

{{PMID Auto
|PMID=20003265
|Title=Extent of differential allelic expression of candidate breast cancer genes is similar in blood and breast.
|OA=1
}}

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

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

{{PMID Auto
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|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=20565774
|Title=Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
|OA=1
}}

{{PMID Auto
|PMID=20661822
|Title=Evaluation of MTHFR677C>T polymorphism in prediction and prognosis of esophageal squamous cell carcinoma: a case-control study in a northern Indian population.
}}

{{PMID Auto
|PMID=20960050
|Title=Dietary methyl donors, methyl metabolizing enzymes, and epigenetic regulators: diet-gene interactions and promoter CpG island hypermethylation in colorectal cancer.
|OA=1
}}

{{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=21349258
|Title=Folate and choline metabolism gene variants and development of uterine cervical carcinoma.
}}

{{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=21422408
|Title=Clotting factor gene polymorphisms and colorectal cancer risk.
}}

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

{{PMID Auto
|PMID=21663380
|Title=Association between the MTHFR gene and Alzheimer's disease: a meta-analysis.
}}

{{PMID Auto
|PMID=21688148
|Title=Polymorphic variants of genes involved in homocysteine metabolism in celiac disease.
|OA=1
}}

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

{{PMID Auto
|PMID=21897271
|Title=Analysis of 4 single-nucleotide polymorphisms in relation to cervical dysplasia and cancer development using a high-throughput ligation-detection reaction procedure.
}}

{{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=21960995
|Title=Common variants of homocysteine metabolism pathway genes and risk of type 2 diabetes and related traits in Indians.
|OA=1
}}

{{PMID Auto
|PMID=22183302
|Title=Folate and choline metabolism gene variants in relation to ovarian cancer risk in the Polish population.
}}

{{PMID Auto
|PMID=22290307
|Title=Predictive index for the onset of medication overuse headache in migraine patients.
}}

{{PMID Auto
|PMID=22388795
|Title=Functional polymorphisms of folate metabolism and response to chemotherapy for colorectal cancer, a systematic review and meta-analysis.
}}

{{PMID Auto
|PMID=22424391
|Title=MTHFR 677T Is a Strong Determinant of the Degree of Hearing Loss Among Polish Males with Postlingual Sensorineural Hearing Impairment.
|OA=1
}}

{{PMID Auto
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|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.
}}

{{PMID Auto
|PMID=23036708
|Title=Association of MTHFR and PPARγ2 genes polymorphism in relation to type 2 diabetes mellitus cases among north Indian population
}}

{{PMID Auto
|PMID=23076983
|Title=Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and age at onset of schizophrenia: No consistent evidence for an association in the nordic population
|OA=1
}}

{{GET Evidence
|gene=MTHFR
|aa_change=Ala222Val
|aa_change_short=A222V
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1801133
|overall_frequency_n=2925
|overall_frequency_d=10758
|overall_frequency=0.271891
|n_genomes=24
|n_genomes_annotated=0
|n_haplomes=26
|n_articles=15
|n_articles_annotated=15
|qualityscore_in_silico=3
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|in_gwas=Y
|in_pharmgkb=Y
|pph2_score=0.858
|genetests_testable=Y
|nblosum100=2
|autoscore=4
|webscore=N
|n_web_uneval=10
|summary_short=this is a.k.a. C677T and Rs1801133. Modulates toxicity of methotrexate in patients. 
}}

{{PMID Auto
|PMID=23090267
|Title=The relationship between the C677T polymorphism of the MTHFR gene and serum levels of luteinizing hormone in males with erectile dysfunction
}}

{{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=23490201
|Title=C677T polymorphism of methylenetetrahydrofolate reductase may contribute to cervical cancer risk in complete over-dominant model
}}

{{PMID Auto
|PMID=22798153
|Title=Homocysteinylated protein levels in internal mammary artery (IMA) fragments and its genotype-dependence. S-homocysteine-induced methylation modifications in IMA and aortic fragments
}}

{{PMID Auto
|PMID=23631762
|Title=Genotyping analysis and 18FDG uptake in breast cancer patients: a preliminary research
|OA=1
}}

{{PMID Auto
|PMID=23353103
|Title=COMT and MTHFR polymorphisms interaction on cognition in schizophrenia: an exploratory study
}}

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

{{PMID Auto
|PMID=23955684
|Title=Lack of association of MTHFR rs1801133 polymorphism and CTCFL mutations with sperm methylation errors in infertile patients
}}

{{ClinVar
|ALT=A
|CAF=0.6754; 0.3246
|CHROM=1
|CLNACC=RCV000003697.3
|CLNALLE=1
|CLNDBN=MTHFR deficiency, thermolabile type
|CLNDSDB=MedGen
|CLNDSDBID=C1856059
|CLNHGVS=NC_000001.11:g.11796321G>A
|CLNSIG=2
|CLNSRC=ClinVar; GTR; OMIM Allelic Variant
|CLNSRCID=NM_005957.4:c.665C>T; GTR000017233; GTR000194242; GTR000254993; GTR000327733; GTR000500035; GTR000500311; 607093.0003
|COMMON=1
|Disease=MTHFR deficiency
|FwdALT=T
|FwdREF=C
|GENEINFO=MTHFR:4524
|GENE_ID=4524
|GENE_NAME=MTHFR
|REF=G
|RSPOS=11796321
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;TPA;PMC;S3D;SLO;NSM;REF;OTH;ASP;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;MTP;OM
|VC=SNV
|VP=0x050378000a1517051f130100
|WGT=1
|dbSNPBuildID=89
|rsid=1801133
|CLNORIGIN=1
}}

{{PMID Auto
|PMID=24023947
|Title=Methylenetetrahydrofolate reductase gene polymorphism and risk of type 2 diabetes mellitus
|OA=1
}}

{{PMID Auto
|PMID=23186985
|Title=Using Alzgene-like approaches to investigate susceptibility genes for vascular cognitive impairment
}}

{{PMID Auto
|PMID=24103477
|Title=Methylenetetrahydrofolate reductase C677T and methionine synthase A2756G polymorphisms influence on leukocyte genomic DNA methylation level
}}

{{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 GWAS
  |PMID=23824729
  |Trait=Homocysteine levels
  |Title=Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.
  |RiskAllele=A
  |Pval=4E-104
  |OR=.16
  |ORtxt=[0.14-0.17] unit increase
  }}
 

{{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=22579472
|Title=The IL6 gene polymorphism -634C>G and IL17F gene polymorphism 7488T>C influence bone mineral density in young and elderly Japanese women.
}}

{{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=22982411
|Title=No association between MTHFR C677T polymorphism and completed suicide.
}}

{{PMID Auto
|PMID=23054000
|Title=Genetic variants in metabolizing genes NQO1, NQO2, MTHFR and risk of prostate cancer: a study from North India.
}}

{{PMID Auto
|PMID=23107763
|Title=Host genetic risk factors for community-acquired pneumonia.
}}

{{PMID Auto
|PMID=23130019
|Title=Frequencies of 23 functionally significant variant alleles related with metabolism of antineoplastic drugs in the chilean population: comparison with caucasian and asian populations.
|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=23217001
|Title=Association of MTHFR Ala222Val (rs1801133) polymorphism and breast cancer susceptibility: An update meta-analysis based on 51 research studies.
|OA=1
}}

{{PMID Auto
|PMID=23274712
|Title=Genetic polymorphisms and the risk of myocardial infarction in patients under 45 years of age.
|OA=1
}}

{{PMID Auto
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|Title=Analysis of polymorphisms and haplotypes in genes associated with vascular tone, hypertension and oxidative stress in Mexican-Mestizo women with severe preeclampsia.
}}

{{PMID Auto
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|Title=Interactions of several single nucleotide polymorphisms and high body mass index on serum lipid traits.
}}

{{PMID Auto
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|Title=Influence of obesity on association between genetic variants identified by genome-wide association studies and hypertension risk in Chinese children.
}}

{{PMID Auto
|PMID=23648444
|Title=The role of the MTHFR 677C>T polymorphism in methotrexate-induced liver toxicity: a meta-analysis in patients with cancer.
}}

{{PMID Auto
|PMID=23649653
|Title=Association between MTHFR Ala222Val (rs1801133) polymorphism and bladder cancer susceptibility: a systematic review and meta-analysis.
}}

{{PMID Auto
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|Title=The potential effect of gender in CYP1A1 and GSTM1 genotype-specific associations with pediatric brain tumor.
}}

{{PMID Auto
|PMID=23773402
|Title=Quantitative assessment of the association between MHTFR C677T (rs1801133, Ala222Val) polymorphism and susceptibility to bladder cancer.
|OA=1
}}

{{PMID Auto
|PMID=24801553
|Title=Analysis of multiple genetic polymorphisms in aggressive-growing and slow-growing abdominal aortic aneurysms
}}

{{PMID Auto
|PMID=24908438
|Title=Influence of genetic polymorphisms of FPGS, GGH, and MTHFR on serum methotrexate levels in Chinese children with acute lymphoblastic leukemia
}}

{{PMID Auto
|PMID=25007187
|Title=Genetic polymorphisms in candidate genes predict increased toxicity with methotrexate therapy in Lebanese children with acute lymphoblastic leukemia
}}

{{PMID Auto
|PMID=25010186
|Title=Dissociable Genetic Contributions to Error Processing: A Multimodal Neuroimaging Study
}}

{{PMID Auto
|PMID=25007516
|Title=[Analysis of the effect of N5, N10-methylenetetrahydrofolate reductase gene C(677)--&gt;T polymorphism on the ischemic stroke development in persons with various risk factors]
}}

{{PMID Auto
|PMID=25020710
|Title=P324Circadian genes in the regulation of lipids in coronary artery disease
}}

{{PMID Auto
|PMID=25039261
|Title=Association Study of MTHFD1 Coding Polymorphisms R134K and R653Q With Migraine Susceptibility
}}

{{PMID Auto
|PMID=25052622
|Title=Maternal homocysteine in pregnancy and offspring birthweight: epidemiological associations and Mendelian randomization analysis
}}

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

{{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 | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}