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Polymorphisms in genes involved in folate metabolism and orofacial clefts
L V K S Bhaskar1, Jyotsna Murthy, G Venkatesh Babu
1Department of Biomedical Sciences, Sri Ramachandra University, No. 1 Ramachandra Nagar, Porur, Chennai 600116, India. lvksbhaskar@gmail.com
Background:
Orofacial clefts (OFCs) are one of the most common birth defects in humans. Maternal use of folate antagonists including dihydrofolate reductase inhibitors has been associated with a higher risk of OFCs thus suggesting that folate-related metabolism and associated genes may be involved in pathogenesis of OFC. The association between folate intake and risk of OFCs however is inconsistent.
Objective:
To review the published evidence that polymorphisms in genes that affect folate metabolism are associated with an increased risk of OFCs.
Methods:
We reviewed articles published up until October 2010, on polymorphisms of genes related to folate and homocysteine metabolism and their associations with OFCs. Articles were identified via Medline searches.
Conclusions:
No consistent evidence emerged of a strong association between risk of OFCs and any known gene related to folate metabolism. Further, recent genome-wide association studies have not identified associations between OFCs and folate-related genes. Further studies are warranted to determine whether gene-environment interactions, including gene-nutrient interactions and epigenetic modifications of genes affect the risk of OFCs.
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