ORIGINAL ARTICLE
The prevalence of homozygous MTHFR polymorphism(s) in a Turkish university hospital population that necessitated MTHFR polymorphism investigation
 
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1
Hacettepe University Faculty of Medicine, Department of Pediatrics, Ankara, Turkey
2
Hacettepe University Faculty of Medicine, Department of Obstetrics and Gynecology, Ankara, Turkey
3
Hacettepe University Faculty of Medicine, Department of Genetics, Ankara, Turkey
4
Hacettepe University Faculty of Medicine, Department of Biostatistics, Hacettepe University Medical School, Ankara, Turkey
Online publish date: 2018-04-15
Publish date: 2018-04-15
 
Electron J Gen Med 2018;15(4):em57
KEYWORDS:
TOPICS:
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.

 
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