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SNP information rs1801394

Normal allele: AA

Polymorphism can lead to elevated homocysteine levels independent of folic acid, vitamin B12 or B6 levels. It is a risk factor for neural tube defects and Down syndrome in the setting of higher homocysteine levels.

Polymorphism rs1801394 is related to topics like this:

Vitamin B9 (folic acid)
Vitamin B12
Methylation and homocysteine
Mitochondrial function
Vegetarian diet


Research and publications:

  9501215   Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria.

  10444342   A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida.

  10500018   Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome.

  10930360   Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome

  12375236   Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida.

  12923861   Methionine synthase (MTR) 2756 (A --> G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome.

  15797993   Effect of polymorphisms in folate-related genes on in vitro methotrexate sensitivity in pediatric acute lymphoblastic leukemia.

  15979034   Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association.

  16013960   Polymorphisms of genes controlling homocysteine levels and IQ score following the treatment for childhood ALL

  17035141   Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions

  18191955   Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools

  18199722   Dietary vitamin B6 intake and the risk of colorectal cancer

  18203168   Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts

  18368069   Polymorphisms in folate-related genes: association with side effects of high-dose methotrexate in childhood acute lymphoblastic leukemia.

  18521744   BRCA1 promoter methylation is associated with increased mortality among women with breast cancer

  18682255   Arsenic metabolism is influenced by polymorphisms in genes involved in one-carbon metabolism and reduction reactions.

  18708404   B-vitamin intake, one-carbon metabolism, and survival in a population-based study of women with breast cancer

  18708408   Vitamins B2, B6, and B12 and risk of new colorectal adenomas in a randomized trial of aspirin use and folic acid supplementation

  18936436   Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994

  18992148   Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study

  19064578   No association of single nucleotide polymorphisms in one-carbon metabolism genes with prostate cancer risk

  19336559   Global DNA hypomethylation (LINE-1) in the normal colon and lifestyle characteristics and dietary and genetic factors

  19376481   One-carbon metabolism and breast cancer: an epidemiological perspective

  19493349   118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects

  19657388   Lack of association between genetic polymorphisms in enzymes associated with folate metabolism and unexplained reduced sperm counts

  19706844   Association of folate-pathway gene polymorphisms with the risk of prostate cancer: a population-based nested case-control study, systematic review, and meta-analysis

  19776626   Polymorphisms in methionine synthase, methionine synthase reductase and serine hydroxymethyltransferase, folate and alcohol intake, and colon cancer risk

  19936946   Germline polymorphisms in the one-carbon metabolism pathway and DNA methylation in colorectal cancer

  20099281   Blood leukocyte DNA hypomethylation and gastric cancer risk in a high-risk Polish population.

  20544798   Genetic and lifestyle variables associated with homocysteine concentrations and the distribution of folate derivatives in healthy premenopausal women

  20549016   MTHFR, MTR, and MTRR polymorphisms in relation to p16INK4A hypermethylation in mucosa of patients with colorectal cancer.

  20718043   Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome

  20813848   Plasma vitamins B2, B6, and B12, and related genetic variants as predictors of colorectal cancer risk

  20852008   Associations of folate, vitamin B12, homocysteine, and folate-pathway polymorphisms with prostate-specific antigen velocity in men with localized prostate cancer.

  20883119   Common polymorphisms in six genes of the methyl group metabolism pathway and obesity in European adolescents.

  20960050   Dietary methyl donors, methyl metabolizing enzymes, and epigenetic regulators: diet-gene interactions and promoter CpG island hypermethylation in colorectal cancer

  21071884   An overview of genetic polymorphisms and pancreatic cancer risk in molecular epidemiologic studies

  21146954   Genes and abdominal aortic aneurysm

  21178085   High intake of folate from food sources is associated with reduced risk of esophageal cancer in an Australian population

  21211571   MTHFR and MTRR genotype and haplotype analysis and colorectal cancer susceptibility in a case-control study from the Czech Republic.

  21281325   Association between selected folate pathway polymorphisms and nonsyndromic limb reduction defects: a case-parental analysis.

  21349258   Folate and choline metabolism gene variants and development of uterine cervical carcinoma.

  21429654   Polymorphic variants of folate and choline metabolism genes and the risk of endometriosis-associated infertility.

  21441680   Profiling single nucleotide polymorphisms (SNPs) across intracellular folate metabolic pathway in healthy Indians.

  21467728   Profile of participants and genotype distributions of 108 polymorphisms in a cross-sectional study of associations of genotypes with lifestyle and clinical factors: a project in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study.

  21597397   Genetic and environmental determinants of plasma total homocysteine levels: impact of population-wide folate fortification.

  21610500   Prenatal vitamins, one-carbon metabolism gene variants, and risk for autism.

  21615938   Genetic polymorphisms in folate pathway enzymes, DRD4 and GSTM1 are related to temporomandibular disorder.

  21618410   Folate pathway polymorphisms predict deficits in attention and processing speed after childhood leukemia therapy.

  21688148   Polymorphic variants of genes involved in homocysteine metabolism in celiac disease.

  21747588   Genetic variation in genes involved in folate and drug metabolism in a south Indian population.

  21748308   Genetic variants in the folate pathway and risk of childhood acute lymphoblastic leukemia.

  21857689   Folate and vitamin B12 in idiopathic male infertility.

  22021659   Genetic variation throughout the folate metabolic pathway influences negative symptom severity in schizophrenia.

  22116453   Folate and vitamin B12-related genes and risk for omphalocele.

  22175024   Pathogenesis of preeclampsia: the genetic component.

  22183302   Folate and choline metabolism gene variants in relation to ovarian cancer risk in the Polish population.

  22199995   The causal roles of vitamin B(12) and transcobalamin in prostate cancer: can Mendelian randomization analysis provide definitive answers?

  22371529   DNA methylation in peripheral blood measured by LUMA is associated with breast cancer in a population-based study.

  22373437   Identification of functional genetic variation in exome sequence analysis.

  22479380   Genetic and non-genetic influences during pregnancy on infant global and site specific DNA methylation: role for folate gene variants and vitamin B12.

  22496743   Genetic variant of AMD1 is associated with obesity in urban Indian children.

  22616673   Global tests of P-values for multifactor dimensionality reduction models in selection of optimal number of target genes.

  22706675   Folic acid supplementation, MTHFR and MTRR polymorphisms, and the risk of childhood leukemia: the ESCALE study (SFCE).

  22719222   The polymorphisms in methylenetetrahydrofolate reductase, methionine synthase, methionine synthase reductase, and the risk of colorectal cancer.

  22792358   Association between genetic variants in DNA and histone methylation and telomere length.

  22796266   Polymorphisms of tumor-related genes IL-10, PSCA, MTRR and NOC3L are associated with the risk of gastric cancer in the Chinese Han population.

  22833659   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.

  22992668   Pharmacogenomics knowledge for personalized medicine.

  23280573   Folate metabolism genes, dietary folate and response to antidepressant medications in late-life depression.

  23294634   Risk score modeling of multiple gene to gene interactions using aggregated-multifactor dimensionality reduction.

  23372658   Investigating multiple candidate genes and nutrients in the folate metabolism pathway to detect genetic and nutritional risk factors for lung cancer.

  23401104   Folate-genetics and colorectal neoplasia: what we know and need to know next.

  23446900   One-carbon metabolism factors and leukocyte telomere length.

  23656756   Single nucleotide polymorphisms in CETP, SLC46A1, SLC19A1, CD36, BCMO1, APOA5, and ABCA1 are significant predictors of plasma HDL in healthy adults.

  23820649   Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

  23940529   Roles of genetic polymorphisms in the folate pathway in childhood acute lymphoblastic leukemia evaluated by Bayesian relevance and effect size analysis.

  23946381   Genetic variants associated with colorectal cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence.

  24048206   Neural tube defects, folic acid and methylation.

  24063603   Cancer-testis gene expression is associated with the methylenetetrahydrofolate reductase 677 C>T polymorphism in non-small cell lung carcinoma.

  24130171   Global DNA methylation and one-carbon metabolism gene polymorphisms and the risk of breast cancer in the Sister Study.

  24261678   Methionine synthase reductase A66G polymorphism and leukemia risk: evidence from published studies.

  24500500   Gene promoter methylation in colorectal cancer and healthy adjacent mucosa specimens: correlation with physiological and pathological characteristics, and with biomarkers of one-carbon metabolism.

  24524080   The effect of multiple single nucleotide polymorphisms in the folic acid pathway genes on homocysteine metabolism.

  24534481   Association between TLR2, MTR, MTRR, XPC, TP73, TP53 genetic polymorphisms and gastric cancer: a meta-analysis.

  24728915   The association of idiopathic recurrent early pregnancy loss with polymorphisms in folic acid metabolism-related genes.

  24748989   Association of methionine synthase rs1801394 and methionine synthase reductase rs1805087 polymorphisms with meningioma in adults: A meta-analysis.

  24991206   Polymorphisms in folate pathway and pemetrexed treatment outcome in patients with malignant pleural mesothelioma.

  25227144   Folate-related polymorphisms in gastrointestinal stromal tumours: susceptibility and correlation with tumour characteristics and clinical outcome.

  25293959   Replication and exploratory analysis of 24 candidate risk polymorphisms for neural tube defects.

  25303517   Association of ITPA genotype with event-free survival and relapse rates in children with acute lymphoblastic leukemia undergoing maintenance therapy.

  25337902   Single nucleotide polymorphisms of one-carbon metabolism and cancers of the esophagus, stomach, and liver in a Chinese population.

  25344837   Relationships among folate, alcohol consumption, gene variants in one-carbon metabolism and p16INK4a methylation and expression in healthy breast tissues.

  25671679   Folate metabolism gene polymorphisms and risk for down syndrome offspring in Turkish women.

  25741868   Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

  25745368   Prediction of methotrexate intolerance in juvenile idiopathic arthritis: a prospective, observational cohort study.

  26196053   Association between genetic polymorphisms in folate-related enzyme genes and infertile men with non-obstructive azoospermia.

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