ESPEYB20 12. The Year in Science and Medicine Genetics (5 abstracts)
12.3. Genetic effects on the timing of parturition and links to fetal birth weight
Pol Solé-Navais , Christopher Flatley , Valgerdur Steinthorsdottir , Marc Vaudel , Julius Juodakis , Jing Chen , Triin Laisk , Abigail L LaBella , David Westergaard , Jonas Bacelis …. , Ge Zhang & Bo Jacobsson
Nat Genet 55, 559–567 (2023). https://doi.org/10.1038/s41588-023-01343-9
Brief summary: This maternal genome-wide meta-analysis of gestational duration (n=195 555) found 22 associated loci and an enrichment in genes expressed during labour. The related meta-analysis of preterm delivery (18 797 cases, 260 246 controls) revealed seven associated loci and large genetic similarities with gestational duration. Maternal alleles that increase gestational duration had a negative effect on birth weight.
Preterm delivery is one of the biggest risk factors for early neonatal and childhood morality. Both maternal and fetal factors seem to influence timing of parturition, however, these factors are incompletely understood. Preterm delivery has been recognized as a syndrome with various mechanisms involved, among them genetic factors of both the mother and the fetus. The presented study enhances our knowledge of the genetic effects on the timing of parturition and the inter-relationship between mother and child regarding gestational duration and birth weight. They identify an unexpected joint effect of some maternal alleles that increase gestational duration are also associated with lower birth weight (i.e., opposite to the expected effect of longer gestation on higher birth weight). They term this phenomenon ‘antagonistic pleiotropy’. We suggest that a longer duration of pregnancy might be an appropriate compensation for maternal factors that restrict fetal growth.
These findings may help in better understanding the molecular signaling of parturition in humans and could eventually lead to the discovery of novel drug targets for tocolysis or labor induction.
ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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