Epidemiology of neural tube defects
Epidemiology of neural tube defects
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DOI：
10.1002/ajmg.c.30057
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发表时间：
2005-05-15
影响因子：
3.1
通讯作者：
Mitchell, LE
中科院分区：
文献类型：
--
作者：
Mitchell, LE
常见的开放性神经管畸形(NTDS)、无脑畸形和脊柱裂的流行病学调查由来已久。从过去对NTDS的研究中，最重要的发现是确定了孕妇补充叶酸的保护作用。幸运的是，叶酸和NTDS之间的联系在20世纪90年代初得到了广泛的接受，当时复杂性状的遗传关联研究变得越来越可行。这些事件的汇合对流行病学和非传染性疾病研究的方向产生了重大影响。评估可能通过叶酸相关过程中的作用或通过其他代谢或发育途径影响NTDS风险的基因的关联研究现在很常见。此外，对可能通过影响母亲或胚胎的营养状况而影响NTD风险的遗传和非遗传因素的研究已成为一个主要的研究重点。过去十年的研究工作表明，基因-基因、基因-环境和更高级别的相互作用以及母体遗传效应影响NTD风险，突显了这些条件下因素的复杂性。未来的挑战是设计解决这些复杂性的研究，并有足够的能力来检测影响NTDS发展的因素或因素组合。(C)2005年Wiley-Liss，Inc.
The epidemiological investigation of the common open neural tube defects (NTDs), anencephaly, and spina bifida, has a long history. The most significant finding from these past studies of NTDs was the identification of the protective effect of maternal, periconceptional supplementation with folic acid. Fortuitously, the association between folic acid and NTDs became widely accepted in the early 1990s, at a time when genetic association studies of complex traits were becoming increasingly feasible. The confluence of these events has had a major impact on the direction of epidemiological, NTD research. Association studies to evaluate genes that may influence the risk of NTDs through their role in folate-related processes, or through other metabolic or developmental pathways are now commonplace. Moreover, the study of genetic as well as non-genetic, factors that may influence NTD risk through effects on the nutrient status of the mother or embryo has emerged as a major research focus. Research efforts over the past decade indicate that gene-gene, gene-environment, and higher-order interactions, as well as maternal genetic effects influence NTD risk, highlighting the complexity of the factors that underlie these conditions. The challenge for the future is to design studies that address these complexities, and are adequately powered to detect the factors or combination of factors that influence the development of NTDs. (c) 2005 Wiley-Liss, Inc.