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Genetic effects on the timing of parturition and links to fetal birth weight

2023; Nature Portfolio; Volume: 55; Issue: 4 Linguagem: Inglês

10.1038/s41588-023-01343-9

1546-1718

Pol Solé-Navais, Christopher Flatley, Valgerður Steinthórsdóttir, Marc Vaudel, Julius Juodakis, Jing Chen, Triin Laisk, Abigail L. LaBella, David Westergaard, Jonas Bacelis, Ben Brumpton, Line Skotte, Maria Carolina Borges, Øyvind Helgeland, Anubha Mahajan, Matthias Wielscher, Frederick T. J. Lin, Catherine Briggs, Carol A. Wang, Gunn-Helen Moen, Robin N. Beaumont, Jonathan P. Bradfield, Abin Abraham, Guðmar Þorleifsson, Maiken E. Gabrielsen, Sisse Rye Ostrowski, Dominika Modzelewska, Ellen A. Nøhr, Elina Hyppönen, Amit Srivastava, Octavious Talbot, Catherine Allard, Scott M. Williams, Ramkumar Menon, Beverley M. Shields, Garðar Sveinbjörnsson, Huan Xu, Mads Melbye, William L. Lowe, Luigi Bouchard, Emily Oken, Ole Birger Pedersen, Daníel F. Guðbjartsson, Christian Erikstrup, Erik Sørensen, Rolv T. Lie, Kari Teramo, Mikko Hallman, Thorhildur Juliusdottir, Hakon Hakonarson, Henrik Ullum, Andrew T. Hattersley, Line Sletner, Mario Merialdi, Sheryl L. Rifas‐Shiman, Thora Steingrimsdottir, Denise Scholtens, Christine Power, Jane West, Mette Nyegaard, John A Capra, Anne Heidi Skogholt, Per Magnus, Ole A. Andreassen, Unnur Thorsteinsdottir, Struan F.A. Grant, Elisabeth Qvigstad, Craig E. Pennell, Marie‐France Hivert, M. Geoffrey Hayes, Marjo‐Riitta Järvelin, Mark I McCarthy, Debbie A. Lawlor, Henriette Svarre Nielsen, Reedik Mägi, Antonis Rokas, Kristian Hveem, Kári Stéfansson, Bjarke Feenstra, Pål R. Njølstad, Louis J Muglia, Rachel M. Freathy, Stefan Johansson, Ge Zhang, Bo Jacobsson,

Preterm Birth and Chorioamnionitis

The timing of parturition is crucial for neonatal survival and infant health. Yet, its genetic basis remains largely unresolved. We present a maternal genome-wide meta-analysis of gestational duration (n = 195,555), identifying 22 associated loci (24 independent variants) and an enrichment in genes differentially expressed during labor. A meta-analysis of preterm delivery (18,797 cases, 260,246 controls) revealed six associated loci and large genetic similarities with gestational duration. Analysis of the parental transmitted and nontransmitted alleles (n = 136,833) shows that 15 of the gestational duration genetic variants act through the maternal genome, whereas 7 act both through the maternal and fetal genomes and 2 act only via the fetal genome. Finally, the maternal effects on gestational duration show signs of antagonistic pleiotropy with the fetal effects on birth weight: maternal alleles that increase gestational duration have negative fetal effects on birth weight. The present study provides insights into the genetic effects on the timing of parturition and the complex maternal-fetal relationship between gestational duration and birth weight.