Genetics of Preterm Delivery
The Prematurity Project in the Murray Lab was started in August 2006 under the direction of Jeff Murray and is funded by an NIH grant entitled "Identification of Maternal and Fetal Genetic Factors in Preterm Birth." While there are many approaches to identifying causal mechanisms in complex traits such as prematurity, genetic investigations afford the opportunity to not only validate previously suspected etiologies but to identify unanticipated factors. A major challenge in studying genetic factors in prematurity is that the risk case is not explicitly defined. The risk might be found in either the mother/uterus unit, the infant/placenta unit, or a combination of the two.

The study involves the identification of women who have delivered a baby prematurely, then obtaining biological samples on her, the infant and the infant's father. If permission is granted, the mother's sisters and parents are also assessed for history of premature delivery, and samples obtained from them. The family's pedigree is looked at individually and also grouped together with others to analyze various factors and their impact on the occurrence of preterm delivery.

We have assembled a team of investigators including obstetricians, pediatricians, quantitative geneticists, and molecular biologists to undertake a comprehensive approach to identify genetic causes of prematurity. Our group has worked together for many years and will use our extensive experience in clinical ascertainment, molecular genetics and statistical approaches for gene identification. The outcome will be confirmation (or rejection) of previously suspected factors, identification of new genetic contributions, and the establishment of a platform that will enable us to move quickly into studies of environmental covariates, biological mechanisms and clinical trials for prevention and treatment.
Related Publications
K.M. Steffen, M.E. Cooper, M. Shi, D. Caprau, H.N. Simhan, J.M. Dagle, M.L. Marazita and J.C. Murray Maternal and fetal variation in genes of cholesterol metabolism is associated with preterm delivery Journal of Perinatology 27:672-680, 2007
Nicole L. Ehn, Margaret E. Cooper, Kristin Orr, Min Shi, Marla K. Johnson, Diane Caprau, John Dagle, Katherine Steffen, Karen Johnson, Mary L. Marazita, David Merrill, and Jeffrey C. Murray Evaluation of fetal and maternal genetic variation in the progesterone receptor gene for contributions to preterm birth Pediatric Research 62(5):630-635, 2007