openSNP | rs1801133

Links to SNPedia

Title	Summary
rs1801133 C/C	Common genotype: normal homocysteine levels
rs1801133 T/T	Homozygous for c677t of mthfr = 10-20% efficiency in processing folic acid = high homocysteine, low b12 and folate levels }} this is the homozygous form of the c677t allele for the mthfr gene. it is found in approximately * 15% of hispanic americans * 12% of caucasian americans * 12% of japanese * 6% of germans * 3% of asians * 2% of african americans * 1% of sub-saharan africans numerous health effects are associated with this variant. * hyperhomocysteinemia and neurologic disorders: a review. (2014). {{pmid\|25324876}} a review. certain genetic factors also cause elevated homocysteine levels, such as c667t substitution of the gene encoding methylenetetrahydrofolate reductase. elevated homocysteine has been observed in several medical conditions, such as cardiovascular disorders, atherosclerosis, myocardial infarction, stroke, minimal cognitive impairment, dementia, parkinson's disease, multiple sclerosis, epilepsy, and eclampsia. there is evidence from laboratory and clinical studies that homocysteine, and especially elevated homocysteine, exerts direct toxic effects on both the vascular and nervous systems. * common folate gene variant, mthfr c677t, is associated with brain structure in two independent cohorts of people with mild cognitive impairment. (2012): a commonly carried c677t polymorphism in a folate-related gene, mthfr, is associated with higher plasma homocysteine, a well-known mediator of neuronal damage and brain atrophy.. … carriers of the mthfr risk allele had detectable brain volume deficits, in the white matter, of up to 2–8% per risk t allele locally at baseline and showed accelerated brain atrophy of 0.5–1.5% per t allele at 1 year follow-up. [http://www.sciencedirect.com/science/article/pii/s2213158212000174] * biological and clinical implications of the mthfr c677t polymorphism. (2001). {{pmid\|11282420}} under conditions of impaired folate status, the homozygous tt genotype has been regarded as harmful because it is associated with a high concentration of plasma total homocysteine. * one-carbon metabolism and alzheimer’s disease: focus on epigenetics. (2010). [http://www.ncbi.nlm.nih.gov/pmc/articles/pmc2930664/] a review - numerous studies have shown that the mthfr 677t allele is associated with increased total plasma homocysteine levels (thcy) and decreased serum folate levels, mainly in 677tt homozygous subjects. other studies have shown an interaction with the apoe4 variant in alzheimer's disease. the c677t genotype is seen more frequently in mothers of children with down syndrome, mothers also show more chromosomal damage than controls. * association of rfc1 a80g and mthfr c677t polymorphisms with alzheimer's disease. (2009). {{pmid\|18258338}} significant associations of t allele and tt genotype with alzheimer's disease were identified in the apoe epsilon4 carrier subgroup, suggesting that mthfr 677 t allele and apoe epsilon4 allele may synergistically act to increase ad risk. * morton's foot and pyridoxal 5'-phosphate deficiency: genetically linked traits. (2014). {{pmid\|25441836
rs1801133 C/T	1 copy of c677t allele of mthfr = 60% efficiency in processing folic acid = could have somewhat elevated homocysteine and low b12 and folate levels

Note: For some SNPs, testing providers detect the genotype from the opposite strand of DNA, so that the genotypes listed on openSNP don't appear here. In those cases, please replace "A" by "T" or "G" by "C" (and vice-versa).

Publications on this SNP on the Public Library of Science:

First Author	Title	Year of Publication	# of readers
Sangmi Kim	Association between Genetic Variants in DNA and Histone Methylation and Telomere Length	2012	4831
Pere Domingo	Association of Thymidylate Synthase Polymorphisms with Acute Pancreatitis and/or Peripheral Neuropathy in HIV-Infected Patients on Stavudine-Based Therapy	2013	1125
Lori D. Hill	Epistasis between COMT and MTHFR in Maternal-Fetal Dyads Increases Risk for Preeclampsia	2011	5465
Todd M. Gibson	Comprehensive Evaluation of One-Carbon Metabolism Pathway Gene Variants and Renal Cell Cancer Risk	2011	3439
Nishi Gupta	Strong Association of 677 C>T Substitution in the MTHFR Gene with Male Infertility - A Study on an Indian Population and a Meta-Analysis	2011	4726
Yongshuai Jiang	Meta-Analysis of 125 Rheumatoid Arthritis-Related Single Nucleotide Polymorphisms Studied in the Past Two Decades	2012	3263
Jeffrey J. W. Verschuren	Systematic Testing of Literature Reported Genetic Variation Associated with Coronary Restenosis: Results of the GENDER Study	2012	2110
Nicole Stone	Bioinformatic and Genetic Association Analysis of MicroRNA Target Sites in One-Carbon Metabolism Genes	2011	7168
Nagafumi Doi	Persistence Criteria for Susceptibility Genes for Schizophrenia: a Discussion from an Evolutionary Viewpoint	2009	5377
Celia Ravel	Lack of Association between Genetic Polymorphisms in Enzymes Associated with Folate Metabolism and Unexplained Reduced Sperm Counts	2009	5288
Amit A. Negandhi	MTHFR Glu429Ala and ERCC5 His46His Polymorphisms Are Associated with Prognosis in Colorectal Cancer Patients: Analysis of Two Independent Cohorts from Newfoundland	2013	3424
Alenka Smid	Association of ITPA Genotype with Event-Free Survival and Relapse Rates in Children with Acute Lymphoblastic Leukemia Undergoing Maintenance Therapy	2014	1799
Carolien A. Wijsman	Homocysteine and Familial Longevity: The Leiden Longevity Study	2011	3472
Wei Wang	MTHFR C677T Polymorphism and Risk of Congenital Heart Defects: Evidence from 29 Case-Control and TDT Studies	2013	3547
Angela M. Devlin	Prenatal Exposure to Maternal Depressed Mood and the MTHFR C677T Variant Affect SLC6A4 Methylation in Infants at Birth	2010	12434
Joshua L. Roffman	A Hypomethylating Variant of MTHFR, 677C>T, Blunts the Neural Response to Errors in Patients with Schizophrenia and Healthy Individuals	2011	2548
Orsolya Lautner-Csorba	Roles of Genetic Polymorphisms in the Folate Pathway in Childhood Acute Lymphoblastic Leukemia Evaluated by Bayesian Relevance and Effect Size Analysis	2013	3555
Radia Boudjenah	Genetic Polymorphisms Influence the Ovarian Response to rFSH Stimulation in Patients Undergoing In Vitro Fertilization Programs with ICSI	2012	6934
Shen-Chih Chang	Single Nucleotide Polymorphisms of One-Carbon Metabolism and Cancers of the Esophagus, Stomach, and Liver in a Chinese Population	2014	2748
Xue Qin	The Association between MTHFR Gene Polymorphisms and Hepatocellular Carcinoma Risk: A Meta-Analysis	2013	2322
Marieke I. Bouwland-Both	DNA Methylation of IGF2DMR and H19 Is Associated with Fetal and Infant Growth: The Generation R Study	2013	3311
Pere Domingo	Polymorphisms of Pyrimidine Pathway Enzymes Encoding Genes and HLA-B*40∶01 Carriage in Stavudine-Associated Lipodystrophy in HIV-Infected Patients	2013	1707
Xian-Hui Gao	Correlations of MTHFR 677C>T Polymorphism with Cardiovascular Disease in Patients with End-Stage Renal Disease: A Meta-Analysis	2014	1100
Nishi Gupta	Significant Impact of the MTHFR Polymorphisms and Haplotypes on Male Infertility Risk	2013	3423
Abdelmajid Eloualid	Association of the MTHFR A1298C Variant with Unexplained Severe Male Infertility	2012	5329
Jinghui Yang	Genetic Association Study with Metabolic Syndrome and Metabolic-Related Traits in a Cross-Sectional Sample and a 10-Year Longitudinal Sample of Chinese Elderly Population	2014	2701
Huai Liu	Genetic Variations in Radiation and Chemotherapy Drug Action Pathways and Survival in locoregionally Advanced Nasopharyngeal Carcinoma Treated with Chemoradiotherapy	2013	2035
Ilana Blech	Predicting Diabetic Nephropathy Using a Multifactorial Genetic Model	2011	4643
Wenjing Ou	Association of CVD Candidate Gene Polymorphisms with Ischemic Stroke and Cerebral Hemorrhage in Chinese Individuals	2014	2033
Fabio Coppedè	Application of Artificial Neural Networks to Investigate One-Carbon Metabolism in Alzheimer’s Disease and Healthy Matched Individuals	2013	2684
Kai Li	Association of 677 C>T (rs1801133) and 1298 A>C (rs1801131) Polymorphisms in the MTHFR Gene and Breast Cancer Susceptibility: A Meta-Analysis Based on 57 Individual Studies	2014	3054
Jill A. McKay	Genetic and Non-Genetic Influences during Pregnancy on Infant Global and Site Specific DNA Methylation: Role for Folate Gene Variants and Vitamin B₁₂	2012	8320
Yigal Agam	Dissociable Genetic Contributions to Error Processing: A Multimodal Neuroimaging Study	2014	1453
Yu-Tao Qin	Association between MTHFR Polymorphisms and Acute Myeloid Leukemia Risk: A Meta-Analysis	2014	2222
Ehsan Pishva	Epigenetic Genes and Emotional Reactivity to Daily Life Events: A Multi-Step Gene-Environment Interaction Study	2014	9737
Zan Teng	The 677C>T (rs1801133) Polymorphism in the MTHFR Gene Contributes to Colorectal Cancer Risk: A Meta-Analysis Based on 71 Research Studies	2013	3179
Catherine J. Spellicy	Folate Metabolism Gene 5,10-Methylenetetrahydrofolate Reductase (MTHFR) Is Associated with ADHD in Myelomeningocele Patients	2012	6295
Chuong B. Do	Web-Based Genome-Wide Association Study Identifies Two Novel Loci and a Substantial Genetic Component for Parkinson's Disease	2011	44101
Hongmei Nan	Pre-Diagnostic Leukocyte Genomic DNA Methylation and the Risk of Colorectal Cancer in Women	2013	1464
Shuyu Long	Methylenetetrahydrofolate Reductase (MTHFR) Polymorphisms and Susceptibility for Cervical Lesions: A Meta-Analysis	2012	2696
Frederick E. Dewey	Phased Whole-Genome Genetic Risk in a Family Quartet Using a Major Allele Reference Sequence	2011	30158
Blanka Stibůrková	Metabolic Syndrome, Alcohol Consumption and Genetic Factors Are Associated with Serum Uric Acid Concentration	2014	4203
Xiaoyan Liu	Association Study of Candidate Gene Polymorphisms with Amnestic Mild Cognitive Impairment in a Chinese Population	2012	2464
Wenjun Ni	Flavopiridol Pharmacogenetics: Clinical and Functional Evidence for the Role of SLCO1B1/OATP1B1 in Flavopiridol Disposition	2010	5591
Shashank Gupta	MTHFR C677T Predisposes to POAG but Not to PACG in a North Indian Population: A Case Control Study	2014	1202
Ya Li Luo	Methylenetetrahydrofolate Reductase C677T Polymorphism and Susceptibility to Cervical Cancer and Cervical Intraepithelial Neoplasia: A Meta-Analysis	2012	2222
Jianxin Jiang	Association between MTHFD1 G1958A Polymorphism and Neural Tube Defects Susceptibility: A Meta-Analysis	2014	1520
Robert Clarke	Homocysteine and Coronary Heart Disease: Meta-analysis of MTHFR Case-Control Studies, Avoiding Publication Bias	2012	20994
Lijun Jing	Ethnic Background and Genetic Variation in the Evaluation of Cancer Risk: A Systematic Review	2014	4020
Rubina Tabassum	Genetic Variant of AMD1 Is Associated with Obesity in Urban Indian Children	2012	3984
Barbara A. Jennings	Evaluating Predictive Pharmacogenetic Signatures of Adverse Events in Colorectal Cancer Patients Treated with Fluoropyrimidines	2013	3796
Jian-Hong Zhong	Methylenetetrahydrofolate Reductase Gene Polymorphism and Risk of Type 2 Diabetes Mellitus	2013	2825
Niels Grarup	Genetic Architecture of Vitamin B₁₂ and Folate Levels Uncovered Applying Deeply Sequenced Large Datasets	2013	9700
Andrew R. Wood	Imputation of Variants from the 1000 Genomes Project Modestly Improves Known Associations and Can Identify Low-frequency Variant - Phenotype Associations Undetected by HapMap Based Imputation	2013	4719
Hui Shi	Study on Environmental Causes and SNPs of MTHFR, MS and CBS Genes Related to Congenital Heart Disease	2015	1274
Jen-Sheng Pei	The Association of Methylenetetrahydrofolate Reductase Genotypes with the Risk of Childhood Leukemia in Taiwan	2015	854
Mohamed N. Saad	Genetic Case-Control Study for Eight Polymorphisms Associated with Rheumatoid Arthritis	2015	2622
Vivian Dionisio Tavares Niewiadonski	Evaluation of a High Throughput Method for the Detection of Mutations Associated with Thrombosis and Hereditary Hemochromatosis in Brazilian Blood Donors	2015	838
Mancheng Gong	MTHFR 677C>T Polymorphism Increases the Male Infertility Risk: A Meta-Analysis Involving 26 Studies	2015	1393
Singh Pooja	MTHFR 677C>T Polymorphism and the Risk of Breast Cancer: Evidence from an Original Study and Pooled Data for 28031 Cases and 31880 Controls	2015	1443
Wei Shen	Association of Blood Lead Levels with Methylenetetrahydrofolate Reductase Polymorphisms among Chinese Pregnant Women in Wuhan City	2015	960
Donghong Zhang	Elevated Homocysteine Level and Folate Deficiency Associated with Increased Overall Risk of Carcinogenesis: Meta-Analysis of 83 Case-Control Studies Involving 35,758 Individuals	2015	1584
Xue-bin Wang	Associations of Polymorphisms in MTHFR Gene with the Risk of Age-Related Cataract in Chinese Han Population: A Genotype-Phenotype Analysis	2015	2079
Ying Wang	Evaluation of High Resolution Melting for MTHFR C677T Genotyping in Congenital Heart Disease	2016	338
S. Justin Carlus	Is MTHFR 677 C>T Polymorphism Clinically Important in Polycystic Ovarian Syndrome (PCOS)? A Case-Control Study, Meta-Analysis and Trial Sequential Analysis	2016	637
Man-Yi Sun	Associations between Methylenetetrahydrofolate Reductase (MTHFR) Polymorphisms and Non-Alcoholic Fatty Liver Disease (NAFLD) Risk: A Meta-Analysis	2016	291
Mai A. Abd-Elmawla	Impact of Genetic Polymorphism of methylenetetrahydrofolate reductase C677T on Development of Hyperhomocysteinemia and Related Oxidative Changes in Egyptian β-Thalassemia Major Patients	2016	139

Publications on this SNP on Mendeley

First Author	Title	Pub. Year	# of Readers	DOI
Nasim Mansoori	MTHFR (677 and 1298) and IL-6-174 G/C genes in pathogenesis of Alzheimer's and vascular dementia and their epistatic interaction.	2011	2	10.1016/j.neurobiolaging.2011.09.018
J A Riancho	MTHFR polymorphism and bone mineral density: meta-analysis of published studies.	2006	3	-
Zainab Samaan	Methylenetetrahydrofolate Reductase Gene Variant (MTHFR C677T) and Migraine: A Case Control Study and Meta-analysis	2011	8	10.1186/1471-2377-11-66
Hongmei Chen	C677T polymorphism of methylenetetrahydrofolate reductase may contribute to cervical cancer risk in complete over-dominant model.	2013	2	10.1016/j.mehy.2013.01.025
Hongliang Liu	Association of polymorphisms in one-carbon metabolizing genes and lung cancer risk: a case-control study in Chinese population	2008	1
Oetting W.S.	Validation of genetic variants associated with early acute rejection in kidney allograft transplantation.	2012	1	http://dx.doi.org/10.1111/j.1399-0012.2011.01522.x
A Kozieradzka	The rs1801133 polymorphism of methylenetetrahydrofolate reductase gene- the association with 5-year survival in patients with ST-elevation myocardial infarction	2012	3	10.2478/v10039-012-0010-1
Susan M Wernimont	Folate network genetic variation, plasma homocysteine, and global genomic methylation content: a genetic association study	2011	21	10.1186/1471-2350-12-150
A I Veinger	Anomalous Positive Microwave Magnetoresistance of Compensated Ge:Ga near the Metal-Insulator Transition	2002	4	10.1002/1521-3951(200203)230:1<107::AID-PSSB107>3.0.CO;2-7
Joshua L. Roffman	A hypomethylating variant of MTHFR, 677C>T, blunts the neural response to errors in patients with schizophrenia and healthy individuals	2011	14	10.1371/journal.pone.0025253
M M Hagleitner	The role of the MTHFR 677C>T polymorphism in methotrexate-induced liver toxicity: a meta-analysis in patients with cancer.	2013	3	10.1038/tpj.2013.19
Liwa Yu	Association of MTHFR Ala222Val (rs1801133) polymorphism and breast cancer susceptibility: An update meta-analysis based on 51 research studies.	2012	3	10.1186/1746-1596-7-171
C Y Vossen	Clotting factor gene polymorphisms and colorectal cancer risk	2011	2	10.1200/JCO.2010.31.8873
Izabela Chojnicka	No association between MTHFR C677T polymorphism and completed suicide	2012	2	10.1016/j.gene.2012.09.019
Fei Jin	Association between the methylenetetrahydrofolate reductase C677T polymorphism and hepatocellular carcinoma risk: a meta-analysis	2009	4	10.1186/1746-1596-4-39
Guillaume Paré	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.	2009	9	10.1161/CIRCGENETICS.108.829804
Zan Teng	The 677C>T (rs1801133) polymorphism in the MTHFR gene contributes to colorectal cancer risk: a meta-analysis based on 71 research studies.	2013	1	10.1371/journal.pone.0055332
Z Samaan	Methylenetetrahydrofolate reductase gene variant (MTHFR C677T) and migraine: a case control study and meta-analysis	2011	1
Guillaume Paré	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.	2009	7	-
Sun X Y	Influence of methylenetetrahydrofolate reductase genetic polymorphisms on antidepressant response	2013	2	-
M Swan	Citizen science genomics as a model for crowdsourced preventive medicine research	2010	1	-
D P Kiel	Genome-wide association with bone mass and geometry in the Framingham Heart Study	2007	4	1471-2350-8-S1-S14 [pii]\n10.1186/1471-2350-8-S1-S14 [doi]
C Valero	MTHFR C677T polymorphism and osteoporotic fractures.	2007	1	10.1055/s-2007-985131
Jian-Hong Zhong	Methylenetetrahydrofolate reductase gene polymorphism and risk of type 2 diabetes mellitus.	2013	1	10.1371/journal.pone.0074521
J A Riancho	MTHFR polymorphism and bone mineral density: meta-analysis of published studies.	2006	3	10.1007/s00223-006-0143-y
Meenakshi Umar	Evaluation of MTHFR677C>T polymorphism in prediction and prognosis of esophageal squamous cell carcinoma: a case-control study in a northern Indian population	2010	0	-
Cristina Camprubí	Lack of association of MTHFR rs1801133 polymorphism and CTCFL mutations with sperm methylation errors in infertile patients.	2013	1	10.1007/s10815-013-0013-2
Akira Yoshimi	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.	2010	3	-
Ye Hua	Association between the MTHFR gene and Alzheimer's disease: a meta-analysis.	2011	3	10.3109/00207454.2011.578778
a Lok	Interaction between the MTHFR C677T polymorphism and traumatic childhood events predicts depression.	2013	2	10.1038/tp.2013.60
W S Oetting	Validation of genetic variants associated with early acute rejection in kidney allograft transplantation	2012	1	10.1111/j.1399-0012.2011.01522.x
A Lok	Interaction between the MTHFR C677T polymorphism and traumatic childhood events predicts depression.	2013	8	10.1038/tp.2013.60
a Kozieradzka	The rs1801133 polymorphism of methylenetetrahydrofolate reductase gene- the association with 5-year survival in patients with ST-elevation myocardial infarction.	2012	3	10.2478/v10039-012-0010-1
Leslie A Lange	Genome-wide association study of homocysteine levels in Filipinos provides evidence for CPS1 in women and a stronger MTHFR effect in young adults	2010	12	10.1093/hmg/ddq062
Catherine J Spellicy	The MTHFR C677T Variant is Associated with Responsiveness to Disulfiram Treatment for Cocaine Dependency.	2012	2	10.3389/fpsyt.2012.00109
Ganesh Chauhan	Common variants of homocysteine metabolism pathway genes and risk of type 2 diabetes and related traits in indians.	2012	7	10.1155/2012/960318
Wolfgang Weger	The methylenetetrahydrofolate reductase 677C>T gene polymorphism is not associated with chronic plaque psoriasis.	2008	2	-
Joshua L Roffman	A hypomethylating variant of MTHFR, 677C>T, blunts the neural response to errors in patients with schizophrenia and healthy individuals	2011	10	10.1371/journal.pone.0025253
Leslie A Lange	Genome-wide association study of homocysteine levels in Filipinos provides evidence for CPS1 in women and a stronger MTHFR effect in young adults.	2010	12	10.1093/hmg/ddq062
Liwa Yu	Association of MTHFR Ala222Val (rs1801133) polymorphism and breast cancer susceptibility: An update meta-analysis based on 51 research studies.	2012	4	10.1186/1746-1596-7-171
S M Wernimont	Folate network genetic variation, plasma homocysteine, and global genomic methylation content: a genetic association study.	2011	2	10.1186/1471-2350-12-150
J.-H. Zhong	Methylenetetrahydrofolate Reductase Gene Polymorphism and Risk of Type 2 Diabetes Mellitus	2013	2
M L Becker	Effect of methotrexate and genotype on RBC folate concentrations and polyglutamate distribution in JIA	2010	2
K Mehlig	The association between plasma homocysteine and coronary heart disease is modified by the MTHFR 677C>T polymorphism.	2013	1	10.1136/heartjnl-2013-304460
Meenakshi Umar	Evaluation of MTHFR677C>T polymorphism in prediction and prognosis of esophageal squamous cell carcinoma: a case-control study in a northern Indian population.	2010	2	-
C Valero	MTHFR C677T polymorphism and osteoporotic fractures.	2007	1	-
Barbara Anne Jennings	Functional polymorphisms of folate metabolism and response to chemotherapy for colorectal cancer, a systematic review and meta-analysis	2012	5	10.1097/FPC.0b013e328351875d
Robert Clarke	Homocysteine and coronary heart disease: Meta-analysis of MTHFR case-control studies, avoiding publication bias	2012	32	10.1371/journal.pmed.1001177
Fei Jin	Association between the methylenetetrahydrofolate reductase C677T polymorphism and hepatocellular carcinoma risk: a meta-analysis.	2009	8	10.1186/1746-1596-4-39
Faith Pangilinan	Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects.	2012	8	10.1186/1471-2350-13-62
Ye Hua	Association between the MTHFR gene and Alzheimer's disease: a meta-analysis.	2011	0	-
D Kiel	Genome-wide association with bone mass and geometry in the Framingham Heart Study	2007	1
Susan M Wernimont	Polymorphisms in serine hydroxymethyltransferase 1 and methylenetetrahydrofolate reductase interact to increase cardiovascular disease risk in humans.	2011	2	-
Peter Saetre	Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and age at onset of schizophrenia: no consistent evidence for an association in the Nordic population.	2012	3	10.1002/ajmg.b.32104
Douglas P Kiel	Genome-wide association with bone mass and geometry in the Framingham Heart Study	2007	1	10.1186/1471-2350-8-S1-S14
K Mehlig	The association between plasma homocysteine and coronary heart disease is modified by the MTHFR 677C>T polymorphism.	2013	3	10.1136/heartjnl-2013-304460
M Swan	Citizen science genomics as a model for crowdsourced preventive medicine research	2010	11
J A Riancho	MTHFR polymorphism and bone mineral density: meta-analysis of published studies	2006	2	10.1007/s00223-006-0143-y
Zhi gang Zhu	Meta-analysis supports association of a functional SNP (rs1801133) in the MTHFR gene with Parkinson's disease	2013	2	10.1016/j.gene.2013.07.034
Aditi Hazra	Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway.	2009	23	10.1093/hmg/ddp428
B A Jennings	Functional polymorphisms of folate metabolism and response to chemotherapy for colorectal cancer, a systematic review and meta-analysis	2012	1	-
Susan M Wernimont	Folate network genetic variation predicts cardiovascular disease risk in non-Hispanic white males.	2012	3	10.3945/jn.111.157180
Liwa Yu	Association of MTHFR Ala222Val (rs1801133) polymorphism and breast cancer susceptibility: An update meta-analysis based on 51 research studies.	2012	5	10.1186/1746-1596-7-171
Zan Teng	The 677C>T (rs1801133) polymorphism in the MTHFR gene contributes to colorectal cancer risk: a meta-analysis based on 71 research studies.	2013	1	10.1371/journal.pone.0055332
David Conen	Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.	2009	2	10.1097/HJH.0b013e32832104c8
Douglas P Kiel	Genome-wide association with bone mass and geometry in the Framingham Heart Study.	2007	15	10.1186/1471-2350-8-S1-S14
Markus Schürks	Interrelationships among the MTHFR 677C>T polymorphism, migraine, and cardiovascular disease.	2008	6	10.1212/01.wnl.0000316198.34558.e5
Susan M Wernimont	Polymorphisms in serine hydroxymethyltransferase 1 and methylenetetrahydrofolate reductase interact to increase cardiovascular disease risk in humans.	2011	6	10.3945/jn.110.132506
Zhi-Gang Zhu	Meta-analysis supports association of a functional SNP (rs1801133) in the MTHFR gene with Parkinson's disease	2013	2	http://dx.doi.org/10.1016/j.gene.2013.07.034
H Liu	Association of polymorphisms in one-carbon metabolizing genes and lung cancer risk: a case-control study in Chinese population	2008	1	S0169-5002(07)00683-6 [pii]\r10.1016/j.lungcan.2007.12.001 [doi]
Rami A Mahfouz	Correlation of methylenetetrahydrofolate reductase polymorphisms with homocysteine metabolism in healthy Lebanese adults.	2012	0	10.1016/j.gene.2012.05.029
M M Hagleitner	The role of the MTHFR 677C>T polymorphism in methotrexate-induced liver toxicity: a meta-analysis in patients with cancer.	2014	7	10.1038/tpj.2013.19
Abee L Boyles	Neural Tube Defects and Folate Pathway Genes: Family-Based Association Tests of Gene–Gene and Gene–Environment Interactions	2006	16	10.1289/ehp.9166
Meenakshi Umar	Evaluation of MTHFR677C>T polymorphism in prediction and prognosis of esophageal squamous cell carcinoma: a case-control study in a northern Indian population.	2010	4	10.1080/01635581003605961
Peter Saetre	Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and age at onset of schizophrenia: no consistent evidence for an association in the Nordic population.	2012	2	10.1002/ajmg.b.32104
Hongmei Chen	C677T polymorphism of methylenetetrahydrofolate reductase may contribute to cervical cancer risk in complete over-dominant model	2013	2	10.1016/j.mehy.2013.01.025
Robert Clarke	Homocysteine and Coronary Heart Disease: Meta-analysis of MTHFR Case-Control Studies, Avoiding Publication Bias.	2012	21	10.1371/journal.pmed.1001177
M Vares	Association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and age of onset in schizophrenia	2009	0	10.1002/ajmg.b.31030
Ganesh Chauhan	Common variants of homocysteine metabolism pathway genes and risk of type 2 diabetes and related traits in Indians	2012	9	10.1155/2012/960318
Zeashan Haider Zaidi	Association of MTHFR and PPARγ2 gene polymorphisms in relation to type 2 diabetes mellitus cases among north Indian population	2012	1	10.1016/j.gene.2012.09.072
D P Kiel	Genome-wide association with bone mass and geometry in the Framingham Heart Study	2007	2
Liwa Yu	Association of MHTFR Ala222Val (rs1801133) polymorphism and breast cancer susceptibility: An update meta-analysis based on 51 research studies.	2012	3	10.1186/1746-1596-7-171
Catherine J Spellicy	The MTHFR C677T Variant is Associated with Responsiveness to Disulfiram Treatment for Cocaine Dependency.	2012	1	10.3389/fpsyt.2012.00109
M M Hagleitner	The role of the MTHFR 677C>T polymorphism in methotrexate-induced liver toxicity: a meta-analysis in patients with cancer.	2013	1	10.1038/tpj.2013.19
Markus Schürks	Interrelationships among the MTHFR 677C>T polymorphism, migraine, and cardiovascular disease.	2008	5	-
A Jakubowska	Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study	2012	1	-
K. L. Tucker	Folate Network Genetic Variation Predicts Cardiovascular Disease Risk in Non-Hispanic White Males	2012	3	10.3945/jn.111.157180
Idoia Labayen	Cardiorespiratory fitness modifies the association between the UCP3-55C>T (rs1800849) polymorphism and plasma homocysteine in Swedish youth.	2010	2	10.1016/j.atherosclerosis.2009.11.030
Shuang Liang	The effect of multiple single nucleotide polymorphisms in the folic acid pathway genes on homocysteine metabolism	2014	1	10.1155/2014/560183
C. Valero	MTHFR C677T polymorphism and osteoporotic fractures	2007	1	10.1055/s-2007-985131
Xiaohong Yu	Synergistic association of DNA repair relevant gene polymorphisms with the risk of coronary artery disease in northeastern Han Chinese	2014	2	10.1016/j.thromres.2013.11.017
M Swan	Citizen science genomics as a model for crowdsourced preventive medicine research	2010	5	-
B A Jennings	Functional polymorphisms of folate metabolism and response to chemotherapy for colorectal cancer, a systematic review and meta-analysis	2012	1	10.1097/FPC.0b013e328351875d
Haiyong Gu	Methylenetetrahydrofolate reductase C677T and reduced folate carrier 80 G>A polymorphisms are associated with an increased risk of conotruncal heart defects	2012	1	10.1515/cclm-2011-0759
Abee L Boyles	Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts.	2008	6	10.1002/ajmg.a
Qing-Yang Huang	Multiple osteoporosis susceptibility genes on chromosome 1p36 in Chinese.	2009	0	-
Dara S. Manoach	A Hypomethylating Variant of MTHFR, 677C>T, Blunts the Neural Response to Errors in Patients with Schizophrenia and Healthy Individuals	2011	13	10.1371/journal.pone.0025253
Hongmei Chen	C677T polymorphism of methylenetetrahydrofolate reductase may contribute to cervical cancer risk in complete over-dominant model.	2013	2	10.1016/j.mehy.2013.01.025
David Conen	Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.	2009	1	-
Alexandra S. Weiner	Methylenetetrahydrofolate reductase C677T and methionine synthase A2756G polymorphisms influence on leukocyte genomic DNA methylation level	2014	2	10.1016/j.gene.2013.09.098

Evidence compiled by the Personal Genome Project

There are no results from the Personal Genome Project yet. Please come back later.

Publications listed by Genome.gov

First Author	Title	Journal	Publication Date	Trait	p-value	Confidence Interval
Pare G	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.	Circ Cardiovasc Genet	04/01/2009	Homocysteine levels	8.0e-35 (WGHS)	[NR] unit increase in log(homocysteine)

Name	rs1801133
Chromosome	1
Position	11796321
Weight of evidence	265

SNP rs1801133

Basic Information

Genotype Frequency

Allele Frequency

Additional Information

Links to SNPedia

Publications on this SNP on the Public Library of Science:

Publications on this SNP on Mendeley

Evidence compiled by the Personal Genome Project

Publications listed by Genome.gov

Users who share this SNP:

Genome Browser

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