Evaluation of fetal and maternal genetic variation in the progesterone receptor gene for contributions to preterm birth.
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.
Ehn
Nicole L
NL
Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA.
Cooper
Margaret E
ME
Orr
Kristin
K
Shi
Min
M
Johnson
Marla K
MK
Caprau
Diana
D
Dagle
John
J
Steffen
Katherine
K
Johnson
Karen
K
Marazita
Mary L
ML
Merrill
David
D
Murray
Jeffrey C
JC
D004252:DNA Mutational Analysis; D005260:Female; D018507:Gene Expression Regulation, Developmental; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005865:Gestational Age; D006801:Humans; D054643:INDEL Mutation; D007231:Infant, Newborn; D007234:Infant, Premature; D008297:Male; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D047928:Premature Birth / Q000235:genetics*; D011980:Receptors, Progesterone / Q000235:genetics*; D012042:Registries; D018570:Risk Assessment; D012307:Risk Factors