NONSYNDROMIC CLEFT LIP AND/OR PALATE. THE ROLE OF FOLIC ACID 30

Ryuichi Hoshi, Luis Marcelo Alves, J. Sá, A. Medrado, P. C. Veiga, S. Reis
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引用次数: 1

Abstract

The nonsyndromic cleft lip and/or palate (NSCL/P) is a common congenital orofacial defect of multifactorial origin with involvement of genetic and nutritional factors. The presence of genetic polymorphisms in enzymes that metabolize folic acid and vitamin supplements used to prevent these anomalies have not yet been well established in the literature. The aim of this study was to conduct a review of the literature about the role of folate and gene polymorphisms in the metabolic pathway of folic acid as regards the occurrence of NSCL/P. We reviewed theoretical material that addressed data on these topics. According to the studies analyzed in the literature, there was no consensus with regard to the protective effect of supplemental folic acid taken in the periconceptional period in the prevention of NSCL/P. The studies that evaluated defects in genes involved in folate metabolism, found an association of some polymorphisms with NSCL/P in different populations.
非综合征性唇裂和/或腭裂。叶酸的作用
非综合征性唇腭裂(NSCL/P)是一种常见的多因素先天性口面部缺陷,涉及遗传和营养因素。在代谢叶酸和维生素补充剂的酶中存在遗传多态性,这些酶用于预防这些异常,但在文献中尚未得到很好的证实。本研究的目的是对叶酸和基因多态性在叶酸代谢途径中与nsl /P的发生有关的文献进行综述。我们回顾了处理这些主题数据的理论材料。根据文献分析的研究,对于围孕期补充叶酸对预防nsl /P的保护作用尚未达成共识。评估叶酸代谢相关基因缺陷的研究发现,在不同人群中,一些多态性与nsl /P存在关联。
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