The prevalence of homozygous MTHFR polymorphism(s) in a Turkish university hospital population that necessitated MTHFR polymorphism investigation
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Hacettepe University Faculty of Medicine, Department of Pediatrics, Ankara, Turkey
Hacettepe University Faculty of Medicine, Department of Obstetrics and Gynecology, Ankara, Turkey
Hacettepe University Faculty of Medicine, Department of Genetics, Ankara, Turkey
Hacettepe University Faculty of Medicine, Department of Biostatistics, Hacettepe University Medical School, Ankara, Turkey
Online publication date: 2018-04-15
Publication date: 2018-04-15
Electron J Gen Med 2018;15(4):em57
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.

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.

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.

MTHFR polymorphisms are more frequent than was expected and one should be cautious when drawing disorder specific conclusions.

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