Methylene tetrahydrofolate reductase polymorphisms and homocysteine level in heart defects


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

PEDIATRICS INTERNATIONAL, vol.56, no.2, pp.167-172, 2014 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 56 Issue: 2
  • Publication Date: 2014
  • Doi Number: 10.1111/ped.12222
  • Journal Name: PEDIATRICS INTERNATIONAL
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.167-172
  • Keywords: 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

Abstract

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.