University of Oulu

Hallman, M., Haapalainen, A., Huusko, J. M., Karjalainen, M. K., Zhang, G., Muglia, L. J., & Rämet, M. (2018). Spontaneous premature birth as a target of genomic research. Pediatric Research, 85(4), 422–431.

Spontaneous premature birth as a target of genomic research

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Author: Hallman, Mikko1; Haapalainen, Antti1; Huusko, Johanna M.2;
Organizations: 1PEDEGO Research Unit, Medical Research Center Oulu, University of Oulu, and Department of Children and Adolescents, Oulu University Hospital, Oulu, Finland
2Division 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
Format: article
Version: accepted version
Access: open
Online Access: PDF Full Text (PDF, 0.4 MB)
Persistent link:
Language: English
Published: Springer Nature, 2019
Publish Date: 2019-09-30


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.

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Series: Pediatric research
ISSN: 0031-3998
ISSN-E: 1530-0447
ISSN-L: 0031-3998
Volume: 85
Issue: 4
Pages: 422 - 431
DOI: 10.1038/s41390-018-0180-z
Type of Publication: A2 Review article in a scientific journal
Field of Science: 3123 Gynaecology and paediatrics
Funding: Supported by the Jane and Aatos Erkko Foundation (MH, MR), and the Sigrid Jusélius Foundation (MH).
Copyright information: © 2018, Springer Nature. This is a post-peer-review, pre-copyedit version of an article published in Pediatric Research. The final authenticated version is available online at: