Varaico: Literature-Extracted Genetic Variants

Gene:MTHFR
Variant:p.E433A
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MTHFR

NM_005957.5:p.E433A

Associated Papers

Association of TyG index and ALOX12 rs112667 polymorphism with T2DM and DKD in Chinese adults.

Yin Y et al.

Journal of Diabetes and Metabolic Disorders, 2026

Population frequencies of thiopurine-related pharmacogenes in healthy individuals from Kosovo.

Pasha F et al.

Human Genome Variation, 2026

Elucidating Genetic Drivers of Chronic Inflammation in Obesity.

Rashidova LO et al.

Biomedicines, 2026

HLA DRB1*01 and *04 Predisposition to Rheumatoid Arthritis and Polymorphisms of the SLCO1B1, MTHFR and PNPLA3 Genes Are Not Associated with Fatty Liver and Hepatotoxicity.

Zekić T et al.

Journal of Clinical Medicine, 2026

Altered biopterin-related cofactor metabolism in the aqueous humor of glaucoma patients.

Zemitis A et al.

Experimental Eye Research, 2026

Pulmonary thromboembolism and aortic thrombosis due to severe hyperhomocysteinemia with MTHFR C677T mutation: a case report.

Oh S et al.

European Heart Journal. Case Reports, 2026

MTHFR and MTRR Polymorphisms Predict Sex-Dependent Psychotic Symptom Improvements, Not Metabolic Changes.

Nadalin S et al.

International Journal of Molecular Sciences, 2026

Integrative Nutrigenomics Approach in Polycystic Ovarian Syndrome: Targeting Gene-Diet Interactions for Personalized Nutraceutical Interventions.

Singh S et al.

The Journal of Nutrition, 2026

Novel MTHFR variants manifesting with hereditary spastic paraplegia and recurrent pulmonary embolism: a case report and literature review of adult-onset severe MTHFR deficiency.

Li YX et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2026

Congenital heart disease and folate pathway gene polymorphisms: findings from a North Indian cohort.

Kukshal P et al.

Bmc Cardiovascular Disorders, 2026

The Contribution of Ethnicity to the Association of MTHFR Variants C677T and A1298C with Autism Spectrum Disorder: A Meta-Analysis.

Pan Y et al.

Brain Sciences, 2026

Genetically reduced MTHFR activity confers protection against multiple sclerosis.

Daghlas I et al.

Journal of Neuroimmunology, 2026

Adams-Oliver Syndrome Type 3: A Case Report of Concurrent RBPJ, CACNA1A, and Double-Heterozygous MTHFR Variants.

Damian GC et al.

Diagnostics (basel, Switzerland), 2026

Genetic and Clinical Determinants of Chronic Thromboembolic Pulmonary Hypertension: The Role of PAI-1 Polymorphism.

Batum Ö et al.

International Journal of Molecular Sciences, 2026

Molecular and multimodal biomarkers in Moyamoya disease: from pathogenic mechanisms to clinical translation.

Li J et al.

European Journal of Medical Research, 2026

Evaluating the Impact of Folate on Male Infertility Using Mendelian Randomization: A Comprehensive Analysis.

Wang W et al.

The World Journal of Men's Health, 2026

MTHFR polymorphisms in autoimmune diseases: Mechanistic and clinical perspectives.

Sun T et al.

Autoimmunity Reviews, 2026

Role of common host genome variants in Childhood Acute Lymphoblastic Leukemia.

Mikkelsen T et al.

Leukemia, 2026

41361660 (PubMed )
Supplement: 41375_2025_2804_MOESM1_ESM.docx

Association analysis of MTHFR (C677T, A1298C) and MTRR (A66G) gene polymorphisms on susceptibility to gestational diabetes mellitus in Chinese pregnant women.

Han W et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2025

MTHFR allele and one-carbon metabolic profile predict severity of COVID-19.

Petrova B et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

Association of MTHFR C677T and A1298C Polymorphisms in Metabolic Alterations, Neuroimaging, and Cognitive Decline in Alzheimer's Disease: Case-Control and Bioinformatics Insights.

Maurya AK et al.

Molecular Neurobiology, 2025

MTHFR and ABCB1 polymorphisms associated with toxicity in hematological malignancies patients receiving high dose methotrexate.

Shi Y et al.

Scientific Reports, 2025

Association between thrombophilic gene variants and thrombosis in the Iranian population: a systematic review and meta-analysis.

Safdari SM et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2025

Association between ABCB1 C3435 T polymorphism- and methotrexate-related toxicity in pediatric acute lymphoblastic leukemia: a meta-analysis.

Yan X et al.

Hematology (amsterdam, Netherlands), 2025

Relationship between MTHFR, MTRR gene polymorphisms and H-type hypertension: a systematic review and meta-analysis.

Gao L et al.

Annals of Human Biology, 2025

Genetic polymorphisms in folate metabolism and their association with recurrent spontaneous abortion.

Wu AN et al.

The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2025

Potential sex-specific associations between MTHFR C677T polymorphism and thyroid autoantibodies in spontaneous abortion: A retrospective study in the Lingnan region of China.

Li Y et al.

Journal of Reproductive Immunology, 2025

Uncovering Hyperhomocysteinemia: Global Risk Patterns and Molecular Disruption in Brain and Vascular Health.

Ramires Júnior OV et al.

Journal of Neurochemistry, 2025

Exploration of Homocysteine Metabolism and Genetics in Autism Spectrum Disorder.

Rouphael M et al.

Nutrients, 2025

Deciphering copy number variations and gene implications in an Egyptian cohort with autism spectrum disorders.

Mohamed AM et al.

Bmc Medical Genomics, 2025

41299679 (PubMed )
Supplement: 12920_2025_2250_MOESM1_ESM.xlsx › ASD_SNPs_from_literature

Neonates born at term with periventricular haemorrhagic infarction: Risk factors and clinical presentation.

Zaykova A et al.

Developmental Medicine and Child Neurology, 2025

Common Methylenetetrahydrofolate Reductase Polymorphism MTHFR 677C>T (rs1801133), Plasma Homocysteine, and Non-Valvular Atrial Fibrillation in Overweight/Obese Patients: Causality Indicated by Mediation and One-Sample Mendelian Randomization Analysis.

Levicki R et al.

Diagnostics (basel, Switzerland), 2025

41300894 (PubMed )
Supplement: diagnostics-15-02870-s001.zip › diagnostics-3921087-supplementary.pdf

Methylenetetrahydrofolate reductase (MTHFR) 677C>T rs1801133 genetic variant, homocysteine, folate, and vitamin B12 levels in patients with multiple sclerosis: a scoping review.

Ribeiro CM et al.

Multiple Sclerosis and Related Disorders, 2025

Methylenetetrahydrofolate Reductase and Methionine Synthase Reductase Polymorphisms: Genetic Predictors of Congenital Heart Disease Subtypes.

Tripathi S et al.

Cureus, 2025

Population-Based Genetic Assessment of Thrombophilia Polymorphisms: Allelic Frequencies and Population Linkage Dynamics.

Tsiatsiou P et al.

Medicina (kaunas, Lithuania), 2025

Association of folate metabolism gene polymorphisms with autism susceptibility and symptom severity in the Chinese population.

Zhang CY et al.

World Journal of Psychiatry, 2025

Necrotizing Enterocolitis Due to Mesenteric Artery Thrombosis in a Patient with Craniofrontonasal Dysplasia: Casual or Causal Association?

Serra G et al.

Journal of Clinical Medicine, 2025

Genetic susceptibility to retinoblastoma: A meta-analysis of single-nucleotide polymorphisms across global populations.

Gupta S et al.

Journal of Cancer Research and Therapeutics, 2025

Association Between Folate Metabolism Risk, Collateral Circulation, and Hemorrhagic Risk in Moyamoya Disease.

Li J et al.

Translational Stroke Research, 2025

Influence of methylenetetrahydrofolate 677C > T variant in murine models following valproic acid exposure.

Yang M et al.

Reproductive Toxicology (elmsford, N.y.), 2025

Hyperhomocysteinemia in pediatric β-thalassemia: links to vitamin cofactor deficiencies and oxidative stress.

Dadashova A et al.

Clinical and Experimental Pediatrics, 2025

Genetic and Environmental Risk Factors for Autism Spectrum Disorder in Saudi Arabia: A Systematic Review.

Hamed NF et al.

Cureus, 2025

Myocardial Infarction in a Patient With Homozygous Plasminogen Activator Inhibitor-1 (PAI-1) 4G/4G Mutation: A Case Report.

Manasrah A et al.

Cureus, 2025

Genotype Combinations and Genetic Risk Score Analyses of MTHFR, MTRR, and MTR Polymorphisms in Hypothyroidism Susceptibility: A Case-Control Study.

Tabakoglu NT et al.

Current Issues in Molecular Biology, 2025

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."