Methylene tetrahydrofolate reductase polymorphisms and homocysteine level in heart defects

ŞAHİNER Ü. M., ALANAY Y., ALEHAN D., TUNÇBİLEK E., ALİKAŞİFOĞLU M.

PEDIATRICS INTERNATIONAL, cilt.56, sa.2, ss.167-172, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 56 Sayı: 2
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1111/ped.12222
  • Dergi Adı: PEDIATRICS INTERNATIONAL
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.167-172
  • Anahtar Kelimeler: folate, heart defect, homocysteine, MTHFR, polymorphism, NEURAL-TUBE DEFECTS, GENETIC RISK-FACTOR, METHYLENETETRAHYDROFOLATE REDUCTASE, FOLIC-ACID, MULTIVITAMIN SUPPLEMENTATION, C677T POLYMORPHISM, CARDIAC DEFECTS, COMMON MUTATION, FOLATE, DISEASE
  • Hacettepe Üniversitesi Adresli: Evet

Özet

BackgroundWhile several single nucleotide polymorphisms are known to influence the metabolism of folate, the methylene tetrahydrofolate reductase (MTHFR) gene has been the most extensively studied. The aim of this study was to investigate the relationship between the MTHFR polymorphisms 1298A>C and 677C>T and congenital heart disease. In addition, the relationship between these gene polymorphisms and homocysteine level was determined in Turkish subjects.