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This article is part of the supplement: Preterm Birth - Interdisciplinary research from the Preterm Birth and Healthy Outcomes Team (PreHOT)

Open Access Commentary

Genome-wide association studies in preterm birth: implications for the practicing obstetrician-gynaecologist

Siobhan M Dolan1* and Inge Christiaens23

Author Affiliations

1 Department of Obstetrics & Gynecology and Women’s Health, Albert Einstein College of Medicine, Montefiore Medical Center, Bronx, NY, 10461, USA

2 Department of Physiology, University of Alberta, Edmonton, Alberta, T6G 2S2, Canada

3 Department of Obstetrics and Gynaecology, Betsi Cadwaladr University Health Board Wrexham Maelor Hospital, Wrexham, LL13 7TD, United Kingdom

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BMC Pregnancy and Childbirth 2013, 13(Suppl 1):S4  doi:10.1186/1471-2393-13-S1-S4

Published: 31 January 2013


Preterm birth has the highest mortality and morbidity of all pregnancy complications. The burden of preterm birth on public health worldwide is enormous, yet there are few effective means to prevent a preterm delivery. To date, much of its etiology is unexplained, but genetic predisposition is thought to play a major role. In the upcoming year, the international Preterm Birth Genome Project (PGP) consortium plans to publish a large genome wide association study in early preterm birth. Genome-wide association studies (GWAS) are designed to identify common genetic variants that influence health and disease. Despite the many challenges that are involved, GWAS can be an important discovery tool, revealing genetic variations that are associated with preterm birth. It is highly unlikely that findings of a GWAS can be directly translated into clinical practice in the short run. Nonetheless, it will help us to better understand the etiology of preterm birth and the GWAS results will generate new hypotheses for further research, thus enhancing our understanding of preterm birth and informing prevention efforts in the long run.