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    GENE:

    MTHFR (Methylenetetrahydrofolate Reductase)

    i
    Other names: MTHFR, methylenetetrahydrofolate reductase, Methylenetetrahydrofolate Reductase (NAD(P)H) 5,10-Methylenetetrahydrofolate Reductase (NADPH),
    15d
    The relationship of dietary folate, folic acid, and childhood cancer. (PubMed, Curr Probl Pediatr Adolesc Health Care)
    The overall evidence supports the continued promotion of adequate maternal folate intake. Future research should prioritize causal inference methods, epigenome-wide analyses, and greater inclusion of underrepresented populations to clarify the role of folate in childhood cancer etiology.
    Review • Journal
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    IGF2 (Insulin-like growth factor 2) • MTHFR (Methylenetetrahydrofolate Reductase)
    22d
    Population-Based Genetic Assessment of Thrombophilia Polymorphisms: Allelic Frequencies and Population Linkage Dynamics. (PubMed, Medicina (Kaunas))
    The APC ratio demonstrated a high sensitivity (99.2%) and specificity (96.6%), indicating that it may serve as a reliable screening method. Our findings highlight informative patterns in the genetic predisposition to thrombophilia, which may help develop rule-based strategies for implementing thromboprophylaxis guidelines and personalized medical interventions.
    Observational data • Journal
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    MTHFR (Methylenetetrahydrofolate Reductase)
    22d
    Towards Personalized Chemotherapy in Gastrointestinal Cancers: Prospective Analysis of Pharmacogenetic Variants in a Russian Cohort. (PubMed, Genes (Basel))
    Several clinically relevant variants were identified: DPYD rs2297595 occurred more frequently than in European cohorts, and UGT1A1 rs8175347 was observed at a higher prevalence, underscoring the potential risk of irinotecan-related neutropenia and diarrhea... This study provides the first comprehensive description of pharmacogenetic polymorphisms in a Russian cohort of patients with gastrointestinal cancers. Our findings confirm the clinical importance of DPYD and UGT1A1 testing and highlight additional variants of potential interest.
    Observational data • Journal
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    ERCC1 (Excision repair cross-complementation group 1) • UGT1A1 (UDP glucuronosyltransferase family 1 member A1) • GSTP1 (Glutathione S-transferase pi 1) • TYMS (Thymidylate Synthetase) • MTHFR (Methylenetetrahydrofolate Reductase) • XPC (XPC Complex Subunit, DNA Damage Recognition And Repair Factor) • CYP3A5 (Cytochrome P450 Family 3 Subfamily A Member 5) • DPYD (Dihydropyrimidine Dehydrogenase) • SLC31A1 (Solute Carrier Family 31 Member 1)
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    irinotecan
    23d
    Inherited Thrombophilia in Early-Onset Carotid Stenosis: A Comparative Study of Dissection, Atherosclerosis, Fibromuscular Dysplasia, and Other Etiologies. (PubMed, Clin Appl Thromb Hemost)
    Routine broad panel testing may offer limited etiologic discrimination. Instead, a context-driven, selective testing approach especially considering antiphospholipid syndrome may be more appropriate.
    Clinical • Observational data • Journal
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    MTHFR (Methylenetetrahydrofolate Reductase)
    23d
    Is the combination of Myelodysplastic syndromes and pulmonary fibrosis accidental or inevitable? (PubMed, Multidiscip Respir Med)
    MTHFR, IFIH1, PCSK9 and CTC1 are involved in key pathways including folate metabolism, immune regulation, inflammatory responses and telomere disorders, which may contribute to the pathogenesis of both MDS and pulmonary fibrosis. The coexistence of these two conditions is likely attributed to complex interactions among multiple gene mutations, environmental triggers, and dysregulated immune processes, rather than a single.
    Journal
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    MTHFR (Methylenetetrahydrofolate Reductase) • CD68 (CD68 Molecule) • IFIH1 (Interferon Induced With Helicase C Domain 1) • MPO (Myeloperoxidase)
    1m
    Homocysteine-driven oxidative stress in pediatric lymphoma: a cross-sectional study of metabolic and genetic modulators. (PubMed, Leuk Lymphoma)
    In multivariate analysis, the T-allele predicted nitrotyrosine (p < 0.05), while homocysteine did not. These findings demonstrate profound disruption of one-carbon metabolism and oxidative stress in pediatric lymphoma at diagnosis, with genetic and micronutrient factors modulating the oxidative burden, emphasizing the value of early metabolic assessment.
    Observational data • Journal
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    MTHFR (Methylenetetrahydrofolate Reductase)
    1m
    Novel Genetic Susceptibility Markers for Breast Cancer in Iraqi Women: First Evidence of CYP3A4*1B Protective Effects and GSTP1/MTHFR Risk Associations. (PubMed, Clin Breast Cancer)
    The study presented the taw evidence of both CYP3A4*1B and GSTP1 Ile105Val along with MTHFR C677T polymorphisms associating them to breast cancer susceptibility in Iraqi population which reflects these specific genetic risks and reinforces middle eastern populations towards precision medicine frameworks concerning breast cancer treatment and intervention strategies.
    Journal
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    GSTP1 (Glutathione S-transferase pi 1) • MTHFR (Methylenetetrahydrofolate Reductase) • CYP3A4 (Cytochrome P450, family 3, subfamily A, polypeptide 4) • COMT (Catechol-O-Methyltransferase)
    2ms
    Clinical and Genetic Profiling of Fibromyalgia-Associated Dry Eye: A Multifactorial Approach. (PubMed, Ocul Surf)
    Genetic polymorphisms and immune dysregulation contribute to FM-DED pathophysiology, supporting the need for differentiated diagnosis and targeted therapies.
    Journal
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    MUC1 (Mucin 1) • MTHFR (Methylenetetrahydrofolate Reductase) • CEACAM6 (CEA Cell Adhesion Molecule 6) • PSMB8 (Proteasome 20S Subunit Beta 8) • COMT (Catechol-O-Methyltransferase)
    2ms
    Novel molecular biomarkers associated with Taxane-induced toxicities in women with breast cancer from the Brazilian Amazon. (PubMed, Clin Transl Oncol)
    These findings represent a unique contribution to the field, potentially enabling more precise chemotherapy selection, particularly for populations such as Amazonian women.
    Journal
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    HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • NOTCH1 (Notch 1) • ABCB1 (ATP Binding Cassette Subfamily B Member 1) • ERCC1 (Excision repair cross-complementation group 1) • ERCC2 (Excision repair cross-complementation group 2) • RAD51 (RAD51 Homolog A) • MTHFR (Methylenetetrahydrofolate Reductase) • CYP3A5 (Cytochrome P450 Family 3 Subfamily A Member 5) • XRCC1 (X-Ray Repair Cross Complementing 1) • CYP1A1 (Cytochrome P450 Family 1 Subfamily A Member 1) • CYP1B1 (Cytochrome P450 Family 1 Subfamily B Member 1) • SOD2 (Superoxide Dismutase 2)
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    paclitaxel • docetaxel
    2ms
    Case Report: Papillophlebitis associated with MOG-IgG-associated optic neuritis. (PubMed, Front Med (Lausanne))
    To the best of our knowledge, this is the first reported case of papillophlebitis occurring as a secondary complication of MOG-associated optic neuritis. This finding provides new insight into the spectrum of MOGAD and underscores the importance of regular fundus examinations during treatment to facilitate the timely management of ocular complications.
    Journal
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    MTHFR (Methylenetetrahydrofolate Reductase)
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    Lucentis (ranibizumab)
    2ms
    Exome sequencing reveals new insights into the germline landscape of inflammatory breast cancer among Tunisian patients. (PubMed, J Transl Med)
    Our findings revealed a complex and heterogeneous genetic background of IBC in the Tunisian population that might contribute to disease susceptibility and impact disease prognosis. The genetic features of IBC presented in this study provide valuable insights into the molecular mechanisms underlying the disease offering not only a deeper understanding within the context of Tunisia but also shedding light on its relevance to other North African populations characterized by similar epidemiological and genetic features.
    Journal • BRCA Biomarker
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    BRCA2 (Breast cancer 2, early onset) • MTHFR (Methylenetetrahydrofolate Reductase) • RAD54L (DNA Repair And Recombination Protein RAD54) • XRCC2 (X-Ray Repair Cross Complementing 2) • IFNAR2 (Interferon Alpha And Beta Receptor Subunit 2) • ABRAXAS1 (Abraxas 1 BRCA1 A Complex Subunit 2)
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    RAD54L mutation
    2ms
    Association of folate metabolism-related enzymes (MTHFR, MYD88, and TP53) and their single nucleotide polymorphisms with breast cancer susceptibility in women from Southwest China: a Bayesian network approach. (PubMed, Front Oncol)
    External validation further demonstrated a breast cancer prevalence of 70%, underscoring the robustness of the model. Interactions among the TP53, MYD88, and folate metabolism-related genes (MTHFR, MTR, and MTRR) may play a critical role in breast cancer susceptibility.
    Journal
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    TP53 (Tumor protein P53) • MYD88 (MYD88 Innate Immune Signal Transduction Adaptor) • MTHFR (Methylenetetrahydrofolate Reductase) • MTRR (5-Methyltetrahydrofolate-Homocysteine Methyltransferase Reductase)