Normal allele: GG
Possible increased risk of fetal birth defects. A 1.5-fold higher risk for Caucasian mothers to give birth to children with DNT (neural tube defect). The association in children with this mutation with an increased risk of heart defects is greater if their mother did not get enough folic acid during pregnancy. The risk is reduced with adequate levels of folic acid and vitamin B6.
Polymorphism rs2236225 is related to topics like this:
Vitamin B6, belonging to the group of water-soluble B vitamins, manifests in three primary forms:...
MTHFR is an enzyme crucial for converting folic acid into an active form known as L-methylfolate,...
The Genetic Methylation Check examines your DNA to offer insights into your unique methylation...
Choline (vitaman B4) is a vital nutrient often lacking in many diets. Indeed, a large portion of...
The mitochondria contain circular chromosomes known as mitochondrial DNA and are organelles...
Gastric cancer is the third leading cause of cancer-related deaths worldwide, with a 5-year...
Research and publications :
Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects.
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 D
MTHFD1 R653Q polymorphism is a maternal genetic risk factor for severe abruptio placentae.
Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk.
Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population.
Common genetic polymorphisms affect the human requirement for the nutrient choline.
Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions
Gene response elements, genetic polymorphisms and epigenetics influence the human dietary requirement for choline.
Lymphocyte gene expression in subjects fed a low-choline diet differs between those who develop organ dysfunction and those who do not.
The methylenetetrahydrofolate dehydrogenase (MTHFD1) 1958G>A variant is not associated with spina bifida risk in the Dutch population.
Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts
Association of polymorphisms in one-carbon metabolizing genes and lung cancer risk: a case-control study in Chinese population.
Genetic risk factors for placental abruption: a HuGE review and meta-analysis.
Folate-related gene polymorphisms as risk factors for cleft lip and cleft palate
Genetic polymorphisms in methyl-group metabolism and epigenetics: lessons from humans and mouse models.
Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study
No association of single nucleotide polymorphisms in one-carbon metabolism genes with prostate cancer risk
Lack of association of polymorphisms in homocysteine metabolism genes with pseudoexfoliation syndrome and glaucoma
Analysis of the MTHFD1 promoter and risk of neural tube defects.
Genetic variants in phosphatidylethanolamine N-methyltransferase and methylenetetrahydrofolate dehydrogenase influence biomarkers of choline metabolism when folate intake is restricted.
Epigenetic mechanisms for nutrition determinants of later health outcomes.
Development of a fingerprinting panel using medically relevant polymorphisms.
118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects
Association of folate-pathway gene polymorphisms with the risk of prostate cancer: a population-based nested case-control study, systematic review, and meta-analysis
Genetics of human neural tube defects.
Germline polymorphisms in the one-carbon metabolism pathway and DNA methylation in colorectal cancer
Application of sex-specific single-nucleotide polymorphism filters in genome-wide association data.
Analysis of the association of CbetaS 844ins68 and MTHFD1 G1958A polymorphisms with Alzheimer's disease in Chinese.
Choline: clinical nutrigenetic/nutrigenomic approaches for identification of functions and dietary requirements.
Genetic and lifestyle variables associated with homocysteine concentrations and the distribution of folate derivatives in healthy premenopausal women
Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project
Maternal polymorphisms in folic acid metabolic genes are associated with nonsyndromic cleft lip and/or palate in the Brazilian population.
Genes and abdominal aortic aneurysm
Folate pathway and nonsyndromic cleft lip and palate.
Variation in folate pathway genes and distal colorectal adenoma risk: a sigmoidoscopy-based case-control study.
Folate and choline metabolism gene variants and development of uterine cervical carcinoma.
Polymorphic variants of folate and choline metabolism genes and the risk of endometriosis-associated infertility.
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.
Choline: clinical nutrigenetic/nutrigenomic approaches for identification of functions and dietary requirements.
Candidate pathway polymorphisms in one-carbon metabolism and risk of rectal tumor mutations.
Genetic polymorphisms in folate pathway enzymes, DRD4 and GSTM1 are related to temporomandibular disorder.
Polymorphic variants of genes involved in homocysteine metabolism in celiac disease.
Genetic variation in genes involved in folate and drug metabolism in a south Indian population.
Genetic variants in the folate pathway and risk of childhood acute lymphoblastic leukemia.
Folate and vitamin B12 in idiopathic male infertility.
A novel gene-environment interaction involved in endometriosis
Folate and vitamin B12-related genes and risk for omphalocele.
Folate and choline metabolism gene variants in relation to ovarian cancer risk in the Polish population.
Genetic variant of AMD1 is associated with obesity in urban Indian children.
Association between genetic variants in DNA and histone methylation and telomere length.
Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects.
Maternal and infant gene-folate interactions and the risk of neural tube defects.
Genetic variation at fifteen gene loci associated with the folate metabolic pathway and the risk of head and neck carcinoma: the Women's Genome Health Study.
Risk score modeling of multiple gene to gene interactions using aggregated-multifactor dimensionality reduction.
One-carbon metabolism factors and leukocyte telomere length.
Roles of genetic polymorphisms in the folate pathway in childhood acute lymphoblastic leukemia evaluated by Bayesian relevance and effect size analysis.
Genetic variants associated with colorectal cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence.
A systematic approach to assessing the clinical significance of genetic variants.
Neural tube defects, folic acid and methylation.
Global DNA methylation and one-carbon metabolism gene polymorphisms and the risk of breast cancer in the Sister Study.
Folate-related gene variants in Irish families affected by neural tube defects.
MTHFR rs2274976 polymorphism is a risk marker for nonsyndromic cleft lip with or without cleft palate in the Brazilian population.
The effect of multiple single nucleotide polymorphisms in the folic acid pathway genes on homocysteine metabolism.
Association between MTHFD1 G1958A polymorphism and neural tube defects susceptibility: a meta-analysis.
Polymorphisms in folate pathway and pemetrexed treatment outcome in patients with malignant pleural mesothelioma.
Association study of MTHFD1 coding polymorphisms R134K and R653Q with migraine susceptibility.
Associations of common variants in methionine metabolism pathway genes with plasma homocysteine and the risk of type 2 diabetes in Han Chinese.
A pilot study on the contribution of folate gene variants in the cognitive function of ADHD probands.
Significant association of MTHFD1 1958G>A single nucleotide polymorphism with nonsyndromic cleft lip and palate in Indian population.
The influence of folate pathway polymorphisms on high-dose methotrexate-related toxicity and survival in children with non-Hodgkin malignant lymphoma.
Replication and exploratory analysis of 24 candidate risk polymorphisms for neural tube defects.
Association of ITPA genotype with event-free survival and relapse rates in children with acute lymphoblastic leukemia undergoing maintenance therapy.
Association between MTHFD1 polymorphisms and neural tube defect susceptibility.
Folate metabolism gene polymorphisms and risk for down syndrome offspring in Turkish women.
Evidence for negative selection of gene variants that increase dependence on dietary choline in a Gambian cohort.
Polymorphisms in maternal folate pathway genes interact with arsenic in drinking water to influence risk of myelomeningocele.
Polymorphisms in MTHFD1 Gene and Susceptibility to Neural Tube Defects: A Case-Control Study in a Chinese Han Population with Relatively Low Folate Levels.
Paternal transmission of MTHFD1 G1958A variant predisposes to neural tube defects in the offspring.
Is MTHFD1 polymorphism rs 2236225 (c.1958G>A) associated with the susceptibility of NSCL/P? A systematic review and meta-analysis.
Autosomal Minor Histocompatibility Antigens: How Genetic Variants Create Diversity in Immune Targets.
Genetic impairments in folate enzymes increase dependence on dietary choline for phosphatidylcholine production at the expense of betaine synthesis.
PACSIN2 polymorphism is associated with thiopurine-induced hematological toxicity in children with acute lymphoblastic leukaemia undergoing maintenance therapy.
Functional variants of the 5-methyltetrahydrofolate-homocysteine methyltransferase gene significantly increase susceptibility to prostate cancer: Results from an ethnic Han Chinese population.
Methylenetetrahydrofolate Dehydrogenase 1 Polymorphisms Modify the Associations of Plasma Glycine and Serine With Risk of Acute Myocardial Infarction in Patients With Stable Angina Pectoris in WENBIT (Western Norway B Vitamin Intervention Trial)
Components of the folate metabolic pathway and ADHD core traits: an exploration in eastern Indian probands.
Evidence of gene-gene interactions between MTHFD1 and MTHFR in relation to anterior encephalocele susceptibility in Northeast India.
Clinical-pharmacogenetic models for personalized cancer treatment: application to malignant mesothelioma.
Deletion of one allele of Mthfd1 (methylenetetrahydrofolate dehydrogenase 1) impairs learning in mice.
Relationship Between Polymorphisms in Methotrexate Pathway Genes and Outcome of Methotrexate Treatment in a Cohort of 119 Patients with Juvenile Idiopathic Arthritis.
Relationship of the MTHFD1 (rs2236225), eNOS (rs1799983), CBS (rs2850144) and ACE (rs4343) gene polymorphisms in a population of Iranian pediatric patients with congenital heart defects.
Association of main folate metabolic pathway gene polymorphisms with neural tube defects in Han population of Northern China.
Evaluation of a clinical pharmacogenetics model to predict methotrexate response in patients with rheumatoid arthritis.
LINE-1 and EPAS1 DNA methylation associations with high-altitude exposure.
Validation of a clinical pharmacogenetic model to predict methotrexate nonresponse in rheumatoid arthritis patients.
Association of neural tube defects with maternal alterations and genetic polymorphisms in one-carbon metabolic pathway.
Association of methionine synthase (rs1805087), methionine synthase reductase (rs1801394), and methylenetetrahydrofolate dehydrogenase 1 (rs2236225) genetic polymorphisms with recurrent implantation failure.
Formate concentrations in maternal plasma during pregnancy and in cord blood in a cohort of pregnant Canadian women: relations to genetic polymorphisms and plasma metabolites.
CpG-SNP site methylation regulates allele-specific expression of MTHFD1 gene in type 2 diabetes.
Independent and Interactive Influences of Environmental UVR, Vitamin D Levels, and Folate Variant MTHFD1-rs2236225 on Homocysteine Levels.
Machine learning in prediction of genetic risk of nonsyndromic oral clefts in the Brazilian population.
