Genomic approaches to the assessment of human spina bifida risk.
Genomic approaches to the assessment of human spina bifida risk.
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DOI：
10.1002/bdra.23592
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发表时间：
2017-01-30
影响因子：
2.1
通讯作者：
Finnell RH
中科院分区：
文献类型：
--
作者：
Ross ME;Mason CE;Finnell RH
结构性出生缺陷是世界范围内儿童死亡和发病的主要原因，影响到所有活产婴儿的6%。在这些疾病中，神经管缺陷（NTD），包括脊柱裂和无脑畸形，是由复杂的基因和环境相互作用的组合引起的，但在人类群体中还知之甚少。大规模并行DNA测序和生物信息学的快速发展允许分析超过2%的基因组序列覆盖蛋白质编码区的整个基因组。收集和分析这些大型数据集的努力有望阐明基因网络变异，并最终增加个体神经管闭合失败风险的表观遗传事件。在这篇综述中，我们讨论了目前对NTD受影响人群进行DNA基因组序列分析所面临的挑战，并将该领域的经验与正在积累大型数据集的其他复杂遗传性疾病进行了比较。这项研究的最终目标是找到优化条件的策略，以促进个别夫妇的健康生育结果。
Structural birth defects are a leading cause of mortality and morbidity in children world-wide, affecting as much as 6% of all live births. Among these conditions, neural tube defects (NTDs), including spina bifida and anencephaly, arise from a combination of complex gene and environment interactions that are as yet poorly understood within human populations. Rapid advances in massively parallel DNA sequencing and bioinformatics allow for analyses of the entire genome beyond the 2% of the genomic sequence covering protein coding regions. Efforts to collect and analyze these large datasets hold promise for illuminating gene network variations and eventually epigenetic events that increase individual risk for failure to close the neural tube. In this review, we discuss current challenges for DNA genome sequence analysis of NTD affected populations, and compare experience in the field with other complex genetic disorders for which large datasets are accumulating. The ultimate goal of this research is to find strategies for optimizing conditions that promote healthy birth outcomes for individual couples.