ArticleGenetics in medicine : official journal of the American College of Medical Genetics2013
ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 64 papers, 3 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
64 citing papers in PubMed, 3 syntheses or guidelines pooled it, 162 citations in OpenAlex.
- Epidemiology and pathogenesis of stroke in preterm infants: A systematic review.Journal of neonatal-perinatal medicine · 2022Pooled it
- A Systematic Review and Recommendations Around Frameworks for Evaluating Scientific Validity in Nutritional Genomics.Frontiers in nutrition · 2021Pooled it
- Methylenetetrahydrofolate reductase gene polymorphisms in the risk of polycystic ovary syndrome and ovarian cancer.Bioscience reports · 2020Pooled it
- Article
- Managing Secondary Findings from Germline Pharmacogenomic Testing.Journal of personalized medicine · 2026Article
- The Dynamic Coenzyme Network of B Vitamins in Nutritional Neuropathy and Neuropsychiatric Vulnerability: A Mechanistic Narrative Review.Nutrients · 2026Review
- Polycythemia Vera, Thrombophilia, CTEPH, Cerebral Venous Sinus Thrombosis and Vertebral Artery Occlusion: A Case-Illustrated Narrative Review of Competing Thrombotic and Hemorrhagic Risks.Life (Basel, Switzerland) · 2026Article
- The rs3024839 and rs2227483 polymorphisms with immune pathomechanism offers a starting point for diagnosis and susceptibility testing of myocardial infarction.Scientific reports · 2026Article
- Congenital bronchopleural fistula in a newborn: a rare cause of persistent neonatal air leak - a case report.Frontiers in pediatrics · 2026Article
- MTHFR variant links homocysteine metabolism and endothelial cell dysfunction by targeting mitophagy in human thoracic aortic dissection patient induced pluripotent stem cell (iPSC) models.Journal of advanced research · 2025Article
- Direct-to-Consumer Genetic Testing.NEJM evidence · 2025Review
- Homocysteine in the Cardiovascular Setting: What to Know, What to Do, and What Not to Do.Journal of cardiovascular development and disease · 2025Review
- Article
- Association of MTHFR missense variants with thromboembolic diseases and coagulation factor levels in European populations.Thrombosis journal · 2025Article
- The Relationship between Homocysteine Levels,International journal of fertility & sterility · 2025Article
- Distribution characteristics of MTHFR C677T gene polymorphism in Han nationality and women of childbearing age in 8 regions of Shaanxi province and a comparative analysis with other regions in China.Frontiers in genetics · 2025Article
- Understanding the Genetic Architecture of Vitamin Status Biomarkers in the Genome-Wide Association Study Era: Biological Insights and Clinical Significance.Advances in nutrition (Bethesda, Md.) · 2024Review
- Article
- Cerebral venous sinus thrombosis and SCN1A, a novel association?Molecular biology reports · 2024Observational
- Variants in the Kallikrein Gene Family and Hypermobile Ehlers-Danlos Syndrome.Research square · 2024Article
4 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
3 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
MTHFR polymorphism testing is frequently ordered by physicians as part of the clinical evaluation for thrombophilia. It was previously hypothesized that reduced enzyme activity of MTHFR led to mild hyperhomocysteinemia which led to an increased risk for venous thromboembolism, coronary heart disease, and recurrent pregnancy loss. Recent meta-analyses have disproven an association between hyperhomocysteinemia and risk for coronary heart disease and between MTHFR polymorphism status and risk for venous t-hromboembolism. There is growing evidence that MTHFR polymorphism testing has minimal clinical utility and, therefore should not be ordered as a part of a routine evaluation for thrombophilia.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.