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MTHFD1 G1958A and CBS 844ins68 polymorphism and its relationship with CHD in North Indian population –  Indian Journal of Medical Sciences (IJMS)


The approximate number of children born with congenital heart disease in India is more than 200,000 per year. A recent study published in the Indian Journal of Medical Sciences showed that both MTHFD1 G1958A and CBS 844ins68 polymorphism were not found to be genetic risk factors in the development of congenital heart defects in the population of Jammu region of Jammu and Kashmir UT. MTHFD1 and CBS are two of the key enzymes that play a pivotal role in the metabolic pathway of homocysteine. Most of the studies revealed that genes involved in folate/homocysteine pathways are involved in the occurrence of congenital heart defects. https://ijmsweb.com/relationship-of-mthfd1-g1958a-and-cbs-844ins68-polymorphism-with-congenital-heart-defects-in-north-indian-population-jammu-and-kashmir-a-case-control-study/. This article has been covered by Medical Dialogues.