MTHFR Gene Polymorphisms: A Single Gene with Wide-Ranging Clinical Implications-A Review
Antoni F Araszkiewicz1, Krzysztof Jańczak1, Paweł Wójcik1
1Faculty of Medicine, Poznan University of Medical Sciences, ul. Fredry 10, 61-701 Poznan, Poland.
Genes
|April 26, 2025
Summary
Genetic variations in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene impact folate metabolism and homocysteine levels. These MTHFR polymorphisms are linked to various diseases, influenced by diet and ethnicity.
Area of Science:
- Genetics
- Biochemistry
- Molecular Biology
Background:
- The enzyme 5,10-methylenetetrahydrofolate reductase (MTHFR) is crucial for folate metabolism.
- MTHFR gene polymorphisms can impair enzyme activity, leading to hyperhomocysteinemia.
- Common MTHFR variants include 667C>T (rs1801133) and 1298A>C (rs1801131).
Purpose of the Study:
- To provide a comprehensive review of MTHFR polymorphisms.
- To summarize current knowledge on the association between MTHFR gene variants and disease susceptibility.
- To serve as a resource for understanding MTHFR's role in various health conditions.
Main Methods:
- Literature review focusing on recent evidence (2015-2025).
- Prioritization of reviews and meta-analyses.
- Data sourced from PubMed and Google Scholar.
Main Results:
- MTHFR polymorphisms are associated with cardiovascular diseases and oxidative stress.
- Links observed with neurological/psychiatric disorders (ASD, Alzheimer's, Schizophrenia, MDD).
- Associations found with fertility issues, pregnancy complications, metabolic disorders, cancers, and autoimmune diseases.
Conclusions:
- The association between MTHFR polymorphisms and certain diseases is well-established, while others need more research.
- Environmental factors like diet and ethnicity significantly influence MTHFR polymorphism outcomes.
- Further investigation is needed to fully elucidate the complex relationship between MTHFR gene variants and disease.
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