Impact of methylenetetrahydrofolate reductase gene polymorphism on cancer and thalassemia incidence

Arzu Dadashova; Mahira Amirova; Gulnara Azizova; Farah Mammadova

doi:10.14739/2310-1210.2025.4.324860

Authors

Arzu Dadashova Azerbaijan Medical University, Baku, Azerbaijan https://orcid.org/0000-0003-4666-9087
Mahira Amirova Azerbaijan Medical University, Baku, Azerbaijan https://orcid.org/0000-0001-5598-6995
Gulnara Azizova Azerbaijan Medical University, Baku, Azerbaijan https://orcid.org/0000-0002-0754-3839
Farah Mammadova Azerbaijan Medical University, Baku, Azerbaijan https://orcid.org/0000-0002-6875-5317

DOI:

https://doi.org/10.14739/2310-1210.2025.4.324860

Keywords:

cancer, homocysteine, methylenetetrahydrofolate reductase, polymorphism, thalassemia

Abstract

The aim of this study is to assess the risk of cancer and thalassemia development in patients carrying methylenetetrahydrofolate reductase (MTHFR) gene polymorphism. The study emphasizes the role of folate deficiency in methionine metabolism, a process known to affect the immune system and coagulation, potentially influencing tumor development and complications associated with thalassemia.

Material and methods. This review article examines existing research on the association between MTHFR gene polymorphisms and their potential link to cancer and thalassemia. A comprehensive literature search was conducted using databases such as PubMed, Google Scholar, and other reputable scientific sources, with a focus on studies published since 2010. Only those studies that investigated the relationship between MTHFR polymorphisms, hypercoagulability, and immune function, and that provided sufficient statistical data, were included in the analysis.

Results. MTHFR gene polymorphism directly affects all processes related to methionine metabolism. Folate deficiency negatively impacts the synthesis of proteins involved in the anticoagulant system and the synthesis of genetic material for rapidly proliferating cells, leading to anemia, thrombocytopenia, and lymphocytosis. On one hand, a decrease in the activity of actively proliferating cells may seem beneficial in tumor treatment. However, the negative impact of folate deficiency on the immune system, particularly T-cells, creates favorable conditions for tumor escape and immune surveillance failure. The association between MTHFR gene polymorphism and complications related to a hypercoagulable state in patients with thalassemia remains controversial: some scientists report a statistically significant relationship, while others largely refute this claim.

Conclusions. MTHFR gene polymorphism may influence the risk of cancer and thalassemia through its effects on folate metabolism, immune function, and coagulation. Further studies are needed to clarify the relationship between MTHFR gene polymorphism, hypercoagulability, and immune system dysfunction in these conditions.

Author Biographies

Arzu Dadashova, Azerbaijan Medical University, Baku

Assistant of the Department of Biochemistry

Mahira Amirova, Azerbaijan Medical University, Baku

Senior Teacher of the Department of Biochemistry

Gulnara Azizova, Azerbaijan Medical University, Baku

Head of the Department of Biochemistry

Farah Mammadova, Azerbaijan Medical University, Baku

Senior Laboratory Assistant of the Department of Biochemistry

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