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.Conclusions:MTHFR polymorphisms are more frequent than was expected and one should be cautious when drawing disorder specific conclusions.
Highlights
Methylenetetrahydrofolate reductase (MTHFR) polymorphisms are reportedly to be associated with coronary artery diseases (CAD), thrombotic events, epilepsy, migraine, repeated miscarriages, and various obstetric complications [1,2,3,4,5,6,7]
This study consisted of 10449 patients who necessitated MTHFR polymorphism investigation owing to various reasons (CAD, thrombotic events, epilepsy, migraine, repeated miscarriages, various obstetric complications, etc.) during
The data of 5205 patients in between June 2008 and June 2012 were used for this analysis and we have demonstrated that 38% of the cases were from obstetrics & gynecology and perinatology departments due to various reasons such as thrombotic events, bad obstetrical history and various obstetric complications
Summary
MTHFR is a critical enzyme which plays a role in folate metabolism and participates in the enzyme pathways associated with DNA methylation [8,9,10]. It converts dietary folate (methylenetetrahydrofolate) to active folate, which is the coenzyme that is required by methionine synthase, together with vitamin B12 [8, 10]. MTHFR polymorphisms may cause various medical disorders through different mechanisms. 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
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