PEDEGO Research Unit, Medical Research Center Oulu, University of Oulu, and Department of Children and Adolescents, Oulu University Hospital, Oulu, Finland.
Division of Human Genetics, Center for Prevention of Preterm Birth, Perinatal Institute, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, March of Dimes Prematurity Research Center Ohio Collaborative, Cincinnati, OH, USA.
Pediatr Res. 2019 Mar;85(4):422-431. doi: 10.1038/s41390-018-0180-z. Epub 2018 Sep 18.
Spontaneous preterm birth is a serious and common pregnancy complication associated with hormonal dysregulation, infection, inflammation, immunity, rupture of fetal membranes, stress, bleeding, and uterine distention. Heredity is 25-40% and mostly involves the maternal genome, with contribution of the fetal genome. Significant discoveries of candidate genes by genome-wide studies and confirmation in independent replicate populations serve as signposts for further research. The main task is to define the candidate genes, their roles, localization, regulation, and the associated pathways that influence the onset of human labor. Genomic research has identified some candidate genes that involve growth, differentiation, endocrine function, immunity, and other defense functions. For example, selenocysteine-specific elongation factor (EEFSEC) influences synthesis of selenoproteins. WNT4 regulates decidualization, while a heat-shock protein family A (HSP70) member 1 like, HSPAIL, influences expression of glucocorticoid receptor and WNT4. Programming of pregnancy duration starts before pregnancy and during placentation. Future goals are to understand the interactive regulation of the pathways in order to define the clocks that influence the risk of prematurity and the duration of pregnancy. Premature birth has a great impact on the duration and the quality of life. Intensification of focused research on causes, prediction and prevention of prematurity is justified.
自发性早产是一种严重且常见的妊娠并发症，与激素失调、感染、炎症、免疫、胎膜破裂、应激、出血和子宫扩张有关。遗传因素占 25-40%，主要涉及母体基因组，胎儿基因组也有贡献。全基因组研究发现候选基因的重大发现，并在独立的复制群体中得到证实，为进一步研究提供了线索。主要任务是定义候选基因、它们的作用、定位、调节以及影响人类分娩开始的相关途径。基因组研究已经确定了一些候选基因，它们涉及生长、分化、内分泌功能、免疫和其他防御功能。例如，硒代半胱氨酸特异性延伸因子（EEFSEC）影响硒蛋白的合成。WNT4 调节蜕膜化，而热休克蛋白家族 A（HSP70）成员 1 样 HSPAIL 影响糖皮质激素受体和 WNT4 的表达。妊娠持续时间的编程在妊娠前和胎盘形成期间开始。未来的目标是了解途径的相互调节，以定义影响早产风险和妊娠持续时间的时钟。早产对妊娠持续时间和生活质量有很大影响。加强对早产原因、预测和预防的有针对性研究是合理的。
