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  • Title: Polymorphisms in genes involved in folate metabolism and orofacial clefts.
    Author: Bhaskar LV, Murthy J, Venkatesh Babu G.
    Journal: Arch Oral Biol; 2011 Aug; 56(8):723-37. PubMed ID: 21310392.
    Abstract:
    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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