PEDIATRICS INTERNATIONAL, vol.56, no.2, pp.167-172, 2014 (Peer-Reviewed Journal)
Article / Article
Science Citation Index Expanded, Scopus
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
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.