Plunkett Jevon, Muglia Louis J
Department of Pediatrics, Center for Preterm Birth Research, and Human and Statistical Genetics Program, Washington University School of Medicine, St. Louis, Missouri, USA.
Ann Med. 2008;40(3):167-95. doi: 10.1080/07853890701806181.
Infants born before term (<37 weeks) have an increased risk of neonatal mortality as well as other health problems. The increasing rate of preterm birth in recent decades, despite improvements in health care, creates an impetus to better understand and prevent this disorder. Preterm birth likely depends on a number of interacting factors, including genetic, epigenetic, and environmental risk factors. Genetic studies may identify markers, which more accurately predict preterm birth than currently known risk factors, or novel proteins and/or pathways involved in the disorder. This review summarizes epidemiological and genetic studies to date, emphasizing the complexity of genetic influences on birth timing. While several candidate genes have been reportedly associated with the disorder, inconsistency across studies has been problematic. More systematic and unbiased genetic approaches are needed for future studies to examine the genetic etiology of human birth timing thoroughly.
早产（孕周<37周）的婴儿出现新生儿死亡及其他健康问题的风险增加。尽管医疗保健有所改善，但近几十年来早产率不断上升，这促使人们更深入地了解和预防这种疾病。早产可能取决于多种相互作用的因素，包括遗传、表观遗传和环境风险因素。基因研究可能会识别出比目前已知风险因素更准确预测早产的标志物，或参与该疾病的新蛋白质和/或信号通路。本综述总结了迄今为止的流行病学和基因研究，强调了遗传因素对出生时间影响的复杂性。虽然据报道有几个候选基因与该疾病有关，但研究结果的不一致性一直是个问题。未来的研究需要更系统、无偏倚的基因方法，以全面研究人类出生时间的遗传病因。
