ArticleClinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis
Polymorphisms C677T and A1298C of MTHFR Gene: Homocysteine Levels and Prothrombotic Biomarkers in Coronary and Pulmonary Thromboembolic Disease.
Article in Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.
- Meta-analysis of the relationship between methylenetetrahydrofolate reductase C677T and A1298C polymorphism and venous thromboembolism in the Caucasian and Asian.Bioscience reports · 2020Pooled it
- Genetic Risk Profiles for Atherosclerosis and Venous Thromboembolism in Azorean and Mainland Portuguese Populations: A Comparative Analysis.Current issues in molecular biology · 2025Article
- Homocysteinylation of Fibrinogen: A Post-Translational Link to Thrombosis.International journal of molecular sciences · 2025Review
- THROMBOTIC RISK EVALUATION OF TWO METHYLENETETRAHYDROFOLATE REDUCTASE MUTATIONS C677t AND A1298c IN VENOUS THROMBOEMBOLISM.Acta clinica Croatica · 2025Article
- Methylenetetrahydrofolate Reductase Gene Polymorphism as a Risk Factor for Coronary Artery Disease.Indian journal of clinical biochemistry : IJCB · 2025Review
- Hypercoagulability and the A1298C MTHFR Mutation: Case Series of Unexplained Pulmonary Embolism.Methodist DeBakey cardiovascular journal · 2025Article
- Gut microbiome alterations in patients with COVID-19-related coagulopathy.Annals of hematology · 2023Article
- Clinical Investigation of Hereditary and Acquired Thrombophilic Factors in Patients with Venous and Arterial Thromboembolism.International journal of general medicine · 2023Article
- Associations of MTHFR gene polymorphism with lipid metabolism and risk of cerebral infarction in the Northwest Han Chinese population.Frontiers in neurology · 2023Article
- SARS-CoV-2 Infection: What Is Currently Known about Homocysteine Involvement?Diagnostics (Basel, Switzerland) · 2022Review
- Chronic management of pulmonary embolism in thromboangiitis obliterans.BMJ case reports · 2022Article
- Factors Influencing the Risk of Major Amputation in Patients with Diabetic Foot Ulcers Treated by Autologous Cell Therapy.Journal of diabetes research · 2022Article
- A 19-Year-Old Man with a History of Recreational Inhalation of Nitrous Oxide with Severe Peripheral Neuropathy and Central Pulmonary Embolism.The American journal of case reports · 2021Article
- Effect of methylenetetrahydrofolate reductase gene polymorphisms and oxidative stress in silent brain infarction.Molecular biology reports · 2021Article
- Comment on an article: "Coagulopathy in COVID-19".Journal of thrombosis and haemostasis : JTH · 2020Article
- Molecular Analysis of Prothrombotic Gene Variants in Venous Thrombosis: A Potential Role for Sex and Thrombotic Localization.Journal of clinical medicine · 2020Article
- Genetically elevated circulating homocysteine concentrations increase the risk of diabetic kidney disease in Chinese diabetic patients.Journal of cellular and molecular medicine · 2019Article
- Methylenetetrahydrofolate reductase polymorphism in healthy volunteers and its correlation with homocysteine levels in patients with thrombosis.Indian journal of pharmacologyArticle
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The activity of the enzyme methylenetetrahydrofolate reductase (MTHFR) determines homocysteine (Hcy) levels, and polymorphisms in its gene affect the activity of the enzyme. Changes in the enzyme's activity may lead to a higher susceptibility to develop arterial and venous thromboembolic disease. The aim was to analyze the relationship between the C677T and A1298C polymorphisms of MTHFR, Hcy levels, and prothrombotic biomarkers in pulmonary embolism (PE) and acute myocardial ischemia (AMI). Clinical files of patients with thromboembolic diseases having complete data and whose doctor had requested an assay to determine the polymorphisms of the MTHFR gene, Hcy levels, and prothrombotic biomarkers were studied to search for the correlation between mutations of the MTHFR gene and Hcy levels in the different diseases. We included 334 files: 158 were from women and 176 from men (51 [19 SD] years). Sixty-three percent have had thrombosis, 8% AMI, and 31% PE. Patients with thrombosis had elevated frequency of the C677T polymorphism. The CC genotype was higher than the TT genotype ( P = .003) and CT versus the TT ( P = .009). In patients with PE, the CC genotype was higher than the TT genotype ( P = .038). Pulmonary embolism with massive and submassive events had predominant genotypes 677 TT ( P = .003) and the AA 1298 ( P = .017). Elevated Hcy levels in the presence of the T allele in the C677T gene and of the A allele in the A1298C gene are associated with AMI and massive and submassive PE.
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