Neural tube defects (NTDs) represent a failure of the neural plate to complete the developmental transition to a neural tube. NTDs are the most common birth anomaly of the CNS. Following mandatory folic acid fortification of dietary grains, a dramatic reduction in the incidence of NTDs was observed in areas where the policy was implemented, yet the genetic drivers of NTDs in humans, and the mechanisms by which folic acid prevents disease, remain disputed. Here, we discuss current understanding of human NTD genetics, recent advances regarding potential mechanisms by which folic acid might modify risk through effects on the epigenome and transcriptome, and new approaches to study refined phenotypes for a greater appreciation of the developmental and genetic causes of NTDs.

中文翻译：

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接近开放性神经管缺陷的机制

神经管缺陷 (NTD) 代表神经板未能完成向神经管的发育过渡。NTD是中枢神经系统最常见的出生异常。在强制强化膳食谷物叶酸后，在实施该政策的地区观察到 NTD 的发病率显着降低，但人类 NTD 的遗传驱动因素以及叶酸预防疾病的机制仍然存在争议。在这里，我们讨论了目前对人类 NTD 遗传学的理解，关于叶酸可能通过对表观基因组和转录组的影响来改变风险的潜在机制的最新进展，以及研究精细表型以更好地了解 NTD 的发育和遗传原因的新方法.