Evaluation of Fetal and Maternal Genetic Variation in the Progesterone Receptor Gene for Contributions to Preterm Birth
| Autor: | Karen J. Johnson, Kristin Orr, Diana Caprau, David C. Merrill, Nicole L Ehn, Margaret E. Cooper, Katherine M. Steffen, Jeffrey C. Murray, John M. Dagle, Marla K. Johnson, Min Shi, Mary L. Marazita |
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| Rok vydání: | 2007 |
| Předmět: |
Male
endocrine system medicine.medical_specialty DNA Mutational Analysis Physiology Gestational Age Single-nucleotide polymorphism Biology Polymorphism Single Nucleotide Risk Assessment Article Gene Frequency INDEL Mutation Pregnancy Risk Factors Internal medicine Progesterone receptor Genetic variation medicine Humans SNP Genetic Predisposition to Disease Registries skin and connective tissue diseases Fetus Infant Newborn Gene Expression Regulation Developmental Gestational age medicine.disease Endocrinology Premature birth Pediatrics Perinatology and Child Health Premature Birth Female Receptors Progesterone Infant Premature hormones hormone substitutes and hormone antagonists |
| Zdroj: | Pediatric Research. 62:630-635 |
| ISSN: | 1530-0447 0031-3998 |
| DOI: | 10.1203/pdr.0b013e3181567bfc |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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