This content is in French.
Genes and the Heart: The Hidden Link of MTHFD1-G1958A
11 février 2025
#Cardiology #CongenitalHeartDisease #GeneEnvironmentInteraction #MTHFD1
Congenital heart diseases (CHD) are among the most common birth defects, affecting approximately 1 to 1.2% of newborns. Their origin is multifactorial, resulting from a complex interaction between genetic predispositions and environmental factors. Among the genes involved, MTHFD1 plays a central role in folate metabolism and the regulation of homocysteine levels, a compound essential for embryonic heart formation. Disruptions in this metabolic pathway can impair fetal heart development, increasing the risk of congenital heart malformations. The MTHFD1-G1958A polymorphism (rs2236225) has been proposed as a potential susceptibility factor for CHD, but study results remain contradictory.
Congenital heart diseases (CHD) are among the most common birth defects, affecting approximately 1 to 1.2% of newborns. Their origin is multifactorial, resulting from a complex interaction between genetic predispositions and environmental factors. Among the genes involved, MTHFD1 plays a central role in folate metabolism and the regulation of homocysteine levels, a compound essential for embryonic heart formation. Disruptions in this metabolic pathway can impair fetal heart development, increasing the risk of congenital heart malformations. The MTHFD1-G1958A polymorphism (rs2236225) has been proposed as a potential susceptibility factor for CHD, but study results remain contradictory.
Sign in to read the rest
Reserved for healthcare professionals, free registration.
Scientific reference
Yi, K., He, et al. (2025). Association of MTHFD1 G1958A (rs2236225) gene polymorphism with the risk of congenital heart disease: a systematic review and meta-analysis. BMC medical genomics, 18(1), 20.
View the source
