Genomics of Preterm Birth--Evidence of Association and Evolving Investigations.
Genomics of Preterm Birth--Evidence of Association and Evolving Investigations.
复制标题
早产的基因组学——关联证据和不断发展的研究。
DOI：
10.1055/s-0035-1571144
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发表时间：
2016
影响因子：
2
通讯作者：
Manuck,TracyA
中科院分区：
文献类型：
--
作者：
McPherson,JessicaA;Manuck,TracyA
早产（PTB）是美国和全世界的一个重大公共卫生问题。双生子研究、遗传性研究和大型人群数据库的调查证明，PTB 的发病机制存在明显的遗传因素。尽管许多单核苷酸多态性与 PTB 相关，但结果不一致且总体令人失望。随着遗传技术的最新进展，研究正在超越简单、更传统的候选基因研究，并扩展到包括使用高通量遗传技术的更多探索性分析。 Care should be taken to consider the potential impact of fetal genotype, the environment, and gene–drug interactions (pharmacogenomics) in addition to maternal genotype.未来的研究应利用不断发展的分析技术，包括通路分析以及遗传和功能数据的相关性，以优化发现，增加有关早产发病机制的知识，并开始开发新的治疗策略。
Preterm birth (PTB) is a large public health problem in the United States and worldwide. There is a clear genetic component to the pathogenesis of PTB, as evidenced by twin studies, heritability studies, and investigations from large population databases. Although numerous single nucleotide polymorphisms have been associated with PTB, results have been inconsistent and overall disappointing. With recent advances in genetic technology, investigations are moving beyond simple, more traditional candidate gene studies, and have expanded to encompass more exploratory analyses using high-throughput genetic techniques. Care should be taken to consider the potential impact of fetal genotype, the environment, and gene–drug interactions (pharmacogenomics) in addition to maternal genotype. Future research should capitalize on evolving analytic techniques, including pathway analyses and correlation of genetic and functional data to optimize discovery, increase knowledge regarding prematurity pathogenesis, and begin to develop novel therapeutic strategies.