Abstract
Progesterone plays a critical role in the maintenance of pregnancy and has been effectively used to prevent recurrences of preterm labor. We investigated the role of genetic variation in the progesterone receptor (PGR) gene in modulating risks for preterm labor by examining both maternal and fetal effects. Cases were infants delivered prematurely at the University of Iowa. DNA was collected from the mother, infant, and father. Seventeen single nucleotide polymorphisms (SNP) and an insertion deletion variant in PGR were studied in 415 families. Results were then analyzed using transmission disequilibrium tests and log-linear-model–based analysis. DNA sequencing of the PGR gene was also carried out in 92 mothers of preterm infants. We identified significant associations between SNP in the PGR for both mother and preterm infant. No etiologic sequence variants were found in the coding sequence of the PGR gene. This study suggests that genetic variation in the PGR gene of either the mother or the fetus may trigger preterm labor.
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Abbreviations
- PGR:
-
progesterone receptor gene
- PR-A:
-
progesterone receptor isoform A
- PROGINS:
-
an alu insertion polymorphism in an intron of the progesterone receptor (PR) gene
- SNP:
-
single nucleotide polymorphisms
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Acknowledgements
The authors thank the many families who participated in this study, making our evaluations possible; Paul Romitti, for providing financial support to the Registry activities; our clinical research nurses, Gretchen Cress, Nancy Krutzfield, Ruthann Schrock, Laura Knosp, and Andrea Harp; and Cara Zimmerman for student support. The authors also thank Drs. Jerome Yankowitz, Kristi Borowski, Sarah England, Lou Muglia, and Hy Simhan for the discussions that were beneficial to this work.
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This work was supported in part by General Clinical Research Centers (GCRC) [supported by a grant M01-RR-59, National Center for Research Resources, GCRC Program, National Institutes of Health (NIH)], March of Dimes Grant (1-FY05-126), NIH grant HD052953, and Centers for Disease Control grant U50 CCU 713238 (Paul Romitti, principal investigator).
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Ehn, N., Cooper, M., Orr, K. et al. Evaluation of Fetal and Maternal Genetic Variation in the Progesterone Receptor Gene for Contributions to Preterm Birth. Pediatr Res 62, 630–635 (2007). https://doi.org/10.1203/PDR.0b013e3181567bfc
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DOI: https://doi.org/10.1203/PDR.0b013e3181567bfc
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