The Genetics of Birth Timing: Insights into a Fundamental Component of Human Development
The Genetics of Birth Timing: Insights into a Fundamental Component of Human Development
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DOI：
10.1111/j.1399-0004.2008.01124.x
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发表时间：
2008-12-01
影响因子：
3.5
通讯作者：
Muglia, L. J.
中科院分区：
文献类型：
--
作者：
Chaudhari, B. P.;Plunkett, J.;Muglia, L. J.
出生的时间需要胎儿成熟与分娩开始的耦合，并且发生在哺乳动物之间的特征性但不同的妊娠。人类早产是一种重要但知之甚少的妊娠结局，它使胎儿成熟和出生时间分离。早产的病因是复杂的，涉及环境和遗传因素，其潜在的分子和细胞致病机制仍然知之甚少。动物模型，虽然受到与人类生理学差异的限制，但在探索哺乳动物出生时间的各种遗传途径的作用方面至关重要。对人类早产的家族聚集性和种族差异的研究有助于理解早产是可遗传的。这种遗传性的很大一部分是由于多基因原因，很少有真正的孟德尔疾病导致早产。到目前为止，使用候选基因方法对早产的人类遗传学进行的研究取得了有限的成功。如果能够充分解决研究设计方面的问题，使用无偏倚方法的新兴研究工作可能会产生有希望的结果。这一前沿研究的发现可能对公共卫生和临床资源的分配产生直接影响，并刺激更有效疗法的开发。
The timing of birth necessitates the coupling of fetal maturation with the onset of parturition, and occurs at characteristic, but divergent gestations between mammals. Preterm birth in humans is an important but poorly understood outcome of pregnancy that uncouples fetal maturation and birth timing. The etiology of preterm birth is complex, involving environmental and genetic factors whose underlying molecular and cellular pathogenic mechanisms remain poorly understood. Animal models, although limited by differences with human physiology, have been crucial in exploring the role of various genetic pathways in mammalian birth timing. Studies in humans of both familial aggregation and racial disparities in preterm birth have contributed to the understanding that preterm birth is heritable. A significant portion of this heritability is due to polygenic causes with few true Mendelian disorders contributing to preterm birth. Thus far, studies of the human genetics of preterm birth using a candidate gene approach have met with limited success. Emerging research efforts using unbiased methods may yield promising results if concerns about study design can be adequately addressed. The findings from this frontier of research may have direct implications for the allocation of public health and clinical resources as well as spur the development of more effective therapeutics.