L V K S Bhaskar1, Jyotsna Murthy, G Venkatesh Babu. 1. Department of Biomedical Sciences, Sri Ramachandra University, No. 1 Ramachandra Nagar, Porur, Chennai 600116, India. lvksbhaskar@gmail.com
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.
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.
Authors: Nicholas J Marini; Wei Yang; Kripa Asrani; John S Witte; Jasper Rine; Edward J Lammer; Gary M Shaw Journal: Am J Med Genet A Date: 2016-09-08 Impact factor: 2.802
Authors: Carlos Salamanca; Patricio González-Hormazábal; Andrea S Recabarren; Pamela A Recabarren; Roberto Pantoja; Noemi Leiva; Rosa Pardo; José Suazo Journal: Pediatr Res Date: 2020-06-03 Impact factor: 3.756