Null association of maternal MTHFR A1298C polymorphism with Down syndrome pregnancy: An updated meta-analysis

Background: Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme of folate/homocysteine pathway and is essential for DNA synthesis and methylation. MTHFR gene polymorphisms have been reported as risk factors for congenital defects and several metabolic and neurological disorders. Several studies have investigated an association between maternal MTHFR A1298C polymorphism and Down syndrome (DS) child. However, results have been inconclusive.