MTHFR
HGNC:7436 · 68 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MTHFR | “The MTHFR T/T genotype, common in European and Asian POAG patients, is entirely absent locally, indicating population-specific allelic distributions that alter folate-metabolism-related optic nerve susceptibility.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Exploring the Association of Genetic Determinants of SIRT1, MTHFR, and MIR146A Gene Polymorphism with the Ischemic Stroke Predisposition: A Case Control Study.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “SNPs in genes related to inflammation (e.g., TNF-α, HMGB1), lipid metabolism (ANGPTL4, DIAPH1), oxidative stress (MTHFR), and regulatory RNAs (MIAT, microRNAs) were associated with stroke susceptibility, subtype-specific risk, post-stroke recovery, or recurrence.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Development and validation of a tetra-primer ARMS-PCR assay for genotyping the MTHFR (rs1801131) c.1286 A > C (p.Glu429Ala) polymorphism: a comparative study with KASP.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Frequent thrombophilia-related variants occurred in F5, SERPINC1, MTHFR, and FII, and inherited thrombocytopenias were linked to MPL, ANKRD26, THPO, DIAPH1, and ADAMTS13.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Genetic analyses revealed significant risk associations with specific Y-chromosome haplotypes, NR4A2 loss-of-function variants, TBX1 copy number variations (CNVs), and MTHFR single-nucleotide polymorphisms (SNPs).” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “In populations across Saudi Arabia, Jordan, Egypt, Tunisia, and Iraq, genetic testing for variants in genes like MTHFR, MDR1, ABCB1, miR-146a, GABARG2, IL-1β, EPHX1, and CYP3A422 can predict drug resistance, and response, improve drug dosing, and minimize ADRs.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “The pathogenesis of thrombophilia involves complex interactions between genetic predispositions, such as mutations in Factor V Leiden, Factor II, MTHFR, and Serpine-1, and environmental factors, including unhealthy lifestyles, prolonged hospitalization, obesity, and cancer.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “BACKGROUND: Studies have linked the methylenetetrahydrofolate reductase (MTHFR) c.665C > T (rs1801133) with hyperhomocysteinemia.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Also, several common gene variants were reported in MTHFR, KLF14, eNOS3, and ACE by whole-exome sequencing.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Genetic variants and breast carcinoma susceptibility: Unveiling the role of MTHFR (rs1801131, rs1801133) and TP53 (rs1042522).” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Colorimetric loop-mediated isothermal amplification (cLAMP) assay for the genotyping of a thrombophilia genetic risk factor, MTHFR (C677T).” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms are associated with major depressive disorder in the Saudi patients attending Erada complex for mental health and Erada services - Jeddah, Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “A number of candidate polymorphisms in certain genes (e.g., FVL, PRT, and MTHFR) were previously reported as risk factors for TEEs in different clinical conditions.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Detection of Methylene Tetrahydrofolate Reductase (MTHFR C677T) Mutation among Acute Lymphoblastic Leukemia in Sudanese Patients.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Thymidylate Synthase (TYMS) and Methylenetetrahydrofolate Reductase (MTHFR) Gene Polymorphisms Associated With Severe Capecitabine Toxicity: The First Case From Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Genotype distributions of the 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T variant for patients were (χ2 = 22.43) and for controls were (χ2 = 0.07); for the MTHFR A1298C variant, they were (χ2 = 54.44) for patients and (χ2 = 4.58) for controls.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “The Association Between MTHFR C677T Gene Polymorphism and Repeated Pregnancy Loss in Arabic Countries: a Systematic Review and Meta-Analysis.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Biochemical Association of MTHFR C677T Polymorphism with Myocardial Infarction in the Presence of Diabetes Mellitus as a Risk Factor.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Thirteen genetic variants, including FV G1691A, FV A4070G, F2 G20210A, F13A1 G103T, FGB - 455G > A, PAI-1 - 675 4G/5G, ITGB3 T1565C, MTHFR C677T, MTHFR A1298C, ACE I/D, APOB G10708A, APOE T388C, and APOE C526T were genotyped using ViennaLab StripAssay.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Genetic Determinants of Cardiovascular Disease: The Endothelial Nitric Oxide Synthase 3 (eNOS3), Krüppel-Like Factor-14 (KLF-14), Methylenetetrahydrofolate Reductase (MTHFR), MiRNAs27a and Their Association with the Predisposition and Susceptibility to Coronary Artery Disease.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “A downward trend in the overall gene expression of select DNA repair and one carbon cycle genes (MGMT, MLH1, UNG, MTHFR, MTR) is noted with increased folate status and FA intake.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “The genetic workup for thrombophilia risk identified several genetic thrombophilia mutations: the homozygous factor XIII V34L and MTHFR A1298C mutations and heterozygous factor V Leiden mutation.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Role of metabolizing MTHFR gene polymorphism (rs1801133) and its mRNA expression among Type 2 Diabetes.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Association of Polymorphism of the Methyl Tetrahydrofolate Reductase (MTHFR) Gene with Anti-Seizure Medication Response in Pediatric Patients in Jeddah, Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Methylenetetrahydrofolate reductase (MTHFR) polymorphism plays a fundamental role in susceptibility to various diseases, including cancers and autoimmune diseases.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Previously reported variants in the F5, MTHFR, PROS1, PROC, F8, F9, SERPINA10, SERPIND1, and HRG genes were recognized in 21 patients.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “BACKGROUND: Methylenetetrahydrofolate reductase, the encoded by the MTHFR gene, plays a crucial role in converting the amino acid homocysteine to methionine.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “MTHFR C677T Polymorphism and Serum Homocysteine Level as Risk Factors of Coronary Heart Disease in Patients with Androgenetic Alopecia: A Case Control Study.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “For example, single-nucleotide polymorphisms (SNPs) in FGG, FGA, and F5 mediate increases in D-dimer and SNPs in ABO, CBS, CPS1 and MTHFR mediate differences in homocysteine levels, and SNPs in TDAG8 associate with Heparin-induced Thrombocytopenia.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Here we explored associations between SNPs in the methylenetetrahydrofolate reductase (MTHFR) gene or combined genotypes and the risk of ASD in a Saudi community.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Causes of HHcy include genetic mutations and enzyme deficiencies in 5, 10-methylenetetrahydrofolate reductase (MTHFR) methionine synthase (MS), and cystathionine β-synthase (CβS).” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Effects of MTHFR and ABCC2 gene polymorphisms on antiepileptic drug responsiveness in Jordanian epileptic patients.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Retraction notice to Breast Cancer Risk, Dietary Intake, and Methylenetetrahydrofolate reductase (MTHFR) Single Nucleotide Polymorphisms Food and Chemical Toxicology 48/7 (2010) 1881 - 1885.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “The genes reviewed are CFTR, SPATA16, AURKC, CATSPER1, GNRHR, MTHFR, SYCP3, SOX9, WT1 and NR5A1 genes.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Chemiluminescence technology for vitamin B12, folate and total plasma homocysteine; ELISA for estradiol and 8-oxo-2-deoxyguanosine; Ellman's method for total glutathione; and PCR-RFLP analysis for the detection of methylene tetrahydrofolate reductase (MTHFR) C677T polymorphism were employed.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “The communal relation of MTHFR, MTR, ACE gene polymorphisms and hyperhomocysteinemia as conceivable risk of coronary artery disease.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “BACKGROUND: The rationale of the current study was to test the clinical utility of the folate pathway genetic polymorphisms in predicting the risk for autism spectrum disorders (ASD) and to address the inconsistencies in the association of MTHFR C677T and hyperhomocysteinemia with ASD.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “OBJECTIVES: The aim of this study is to detect the pattern of genetic polymorphism of methylene tetrahydrofolate reductase (MTHFR C677 T and A1298 C), transforming growth factor-β1 (TGF-β1 T869 C) and lymphotoxin-α (LT-α A252G) in patients having rheumatoid arthritis and correlate these patterns to disease activity and serum levels of tumor necrosis factor-alpha (TNF-α), B-Cell Activating Factor (BAFF), and osteopontin.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Out of the eight polymorphisms analyzed, methylenetetrahydrofolate reductase (MTHFR) C677T exhibited positive association with the breast cancer risk in both fixed effects (OR 1.14, 95 % CI 1.10-1.17) and random effects (OR 1.10, 95 % CI 1.02-1.18) models.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Is MTHFR 677 C>T Polymorphism Clinically Important in Polycystic Ovarian Syndrome (PCOS)?” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Multifactor dimensionality reduction analysis showed the following interactions in responders to folate: RFC1 G80A × MTHFR C677T (primary), COMT H108L × CYP1A1 m2 (secondary), MTR A2756G (tertiary).” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Allelic polymorphisms of three thrombophilic genes (Factor V Leiden, Prothrombin A20210G, MTHFR C677T) were performed using PCR-RFLP (restriction fragment length polymorphism) and gel electrophoresis.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Impact of MTHFR (C677T) gene polymorphism on antiepileptic drug monotherapy in North Indian epileptic population.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “MTHFR 677C>T polymorphism and the risk of breast cancer: evidence from an original study and pooled data for 28031 cases and 31880 controls.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Evaluation of Gestational Diabetes Mellitus Risk in South Indian Women Based on MTHFR (C677T) and FVL (G1691A) Mutations.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Combination of factor V Leiden and MTHFR mutations in myocardial infarction.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “ACE I/D and MTHFR C677T polymorphisms are significantly associated with type 2 diabetes in Arab ethnicity: a meta-analysis.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Association of MTHFR C677T and A1298C gene polymorphisms with hypertension.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Real-time polymerase chain reaction (PCR) genotyping was carried out to determine the polymorphic variants of factor V Leiden 1695G/A, prothrombin 20210G/A, plasmin activator inhibitor 1 4G/5G, methylene tetrahydrofolate reductase (MTHFR) 677C/T, MTHFR 1298A/C, and angiotensin-converting enzyme (ACE) insertion/deletion (I/D) among a representative sample of healthy Saudi subjects.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Severe hyperhomocysteinemia could be caused by cystathionine-β-synthase enzyme deficiency but it could be due to homozygosity of a common 677C/T point mutation in the coding region of the methylenetetrahydrofolate reductase (MTHFR) gene as a 3-fold increase in risk of CAD is associated with the MTHFR 677TT genotype.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “In addition, inherited prothrombotic defects, such as protein C, protein S, and antithrombin deficiencies, and genetic mutations for FV Leiden, prothrombin gene G20210A (FII G20210A), and methyltetrahydrofolate reductase C677T (MTHFR C677T) were studied.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Methylene tetrahydrofolate reductase (MTHFR) and angiotensinogen converting enzyme (ACE) gene polymorphisms related to overweight and obesity among Saudi patients in Al Qassim.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Breast cancer risk, dietary intake, and methylenetetrahydrofolate reductase (MTHFR)single nucleotide polymorphisms.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “The association of factor V-Leiden and methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C mutations with stroke was investigated in 118 patients with stroke and 120 control subjects.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “BACKGROUND: This work was planned to check for the association of polymorphisms related to methylenetetrahydrofolate reductase (MTHFR) and angiotensin converting enzyme (ACE) genes with overweight/obesity among Saudi subjects from Qassim region.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Their DNAs were analyzed for genetic polymorphisms of the methylenetetrahydrofolate reductase (MTHFR; 677C/T and 1298 A/C) as well as angiotensin-converting enzyme genes (ACE; insertion/deletion [I/D]) using real-time polymerase chain reaction.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “METHODS: 223 incident papillary thyroid cancer cases and 513 controls recruited from Saudi Arabian population were analyzed for the association between polymorphisms in genes encoding folic acid metabolizing enzymes MTHFR and six xenobiotics-metabolizing enzymes including CYP1A1 T3801C, C4887A, GSTP1 A1578G, C2293T, GSTM1, GSTT1, NAT2 G590A, NQO*1 C609T, using PCR-RELP.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Traditional risk factors of CAD and protein C, S, antithrombin III deficiencies, factor V Leiden (FV Leiden), prothrombin G20210A and methylenetetrahydrofolate reductase (MTHFR) C677T mutations were investigated.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “The methylenetetrahydrofolate reductase (MTHFR) gene polymorphism, apolipoprotein E (apo epsilon4) gene polymorphism and polymorphism of plasminogen activator inhibitor-1 (PAI-1) have been shown to be associated with end-stage renal disease (ESRD).” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Methylenetetrahydrofolate reductase (MTHFR) balances the pool of folate coenzymes in one carbon metabolism of deoxyribonucleic acid (DNA) synthesis and methylation; both are implicated in carcinogenesis of many types of cancer including lymphoma.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “The association of methylenetetrahydrofolate reductase (MTHFR) gene mutations, C677T and A1298C, together with changes in homocysteine (Hcy) levels was investigated in 106 sickle cell disease patients and 156 healthy controls from Bahrain.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “RESULTS: In all cases, complete blood count, antithrombin III, protein S levels, factor V Leiden mutation, prothrombin 20210 mutation, methylenetetrahydrofolate reductase (MTHFR) 677 mutation and homocysteine levels were studied.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “All women were tested two months after delivery for mutations of factor V Leiden, methylenetetrahydrofolate reductase (MTHFR), and prothrombin gene mutation as well as for deficiencies of protein C, protein S, and antithrombin III.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Factor V G1691A, prothrombin G20210A, and methylenetetrahydrofolate reductase [MTHFR] C677T gene polymorphism in angiographically documented coronary artery disease.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Factor V-Leiden, prothrombin G20210A, and MTHFR C677T mutations among patients with sickle cell disease in Eastern Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “We used PCR analysis to catalog the frequencies of alleles and genotypes for CYP1A1, NAT2, GSTs, MTHFR, MTR (MS) and NQO*1 in Arabs.” | 0.98 | hgnc_dict_v1 |