Abstract
Background: Methylenetetrahydrofolate reductase (MTHFR) polymorphisms may cause various medical disorders through different mechanisms. We aimed to determine the allelic frequency and the prevalence of homozygous MTHFR polymorphisms in a tertiary university hospital population that necessitated MTHFR polymorphism investigation owing to various reasons. Methods: Our study consisted of 10449 patients who necessitated MTHFR polymorphism investigation owing to various reasons (coronary artery diseases, thrombotic events, epilepsy, migraine, repeated miscarriages, various obstetric complications) during 2008-2017. Results: The allelic frequency of MTHFR 677 and MTHFR 1298 mutations were 0.296 and 0.283 respectively. The prevalence of homozygous MTHFR C677T and MTHFR A1298C polymorphisms were 10.2 % and 11.1 %, respectively. Conclusion: MTHFR polymorphisms are more frequent than was expected and one should be cautious when drawing disorder specific conclusions.
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Gumruk, F., Orgul, G., Dogan, O. A., Tanacan, A., Karaagaoglu, E., & Beksac, M. S. (2018). The prevalence of homozygous mthfr polymorphism(S) in a turkish university hospital population that necessitated mthfr polymorphism investigation. Electronic Journal of General Medicine, 15(4). https://doi.org/10.29333/ejgm/89674
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