The prevalence of homozygous mthfr polymorphism(S) in a turkish university hospital population that necessitated mthfr polymorphism investigation


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GÜMRÜK F., Orgul G., DOĞAN A., Tanacan A., Karaagaoglu E., Beksac M. S.

Electronic Journal of General Medicine, cilt.15, sa.4, 2018 (Scopus) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 15 Sayı: 4
  • Basım Tarihi: 2018
  • Doi Numarası: 10.29333/ejgm/89674
  • Dergi Adı: Electronic Journal of General Medicine
  • Derginin Tarandığı İndeksler: Scopus
  • Anahtar Kelimeler: Demographic analysis, Gene frequency, Genetic polymorphism, Methylenetetrahydrofolate reductase, Turkey
  • Lokman Hekim Üniversitesi Adresli: Hayır

Özet

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.