Genetic effects on the timing of parturition and links to fetal birth weight
Solé-Navais, Pol; Flatley, Christopher; Steinthorsdottir, Valgerdur; Vaudel, Marc; Juodakis, Julius; Chen, Jing; Laisk, Triin; LaBella, Abigail L; Westergaard, David; Bacelis, Jonas; Brumpton, Ben; Skotte, Line; Borges, Maria C; Helgeland, Øyvind; Mahajan, Anubha; Wielscher, Matthias; Lin, Frederick; Briggs, Catherine; Wang, Carol A; Moen, Gunn-Helen; Beaumont, Robin N; Bradfield, Jonathan P; Abraham, Abin; Thorleifsson, Gudmar; Gabrielsen, Maiken E; Ostrowski, Sisse R; Modzelewska, Dominika; Nohr, Ellen A; Hypponen, Elina; Srivastava, Amit; Talbot, Octavious; Allard, Catherine; Williams, Scott M; Menon, Ramkumar; Shields, Beverley M; Sveinbjornsson, Gardar; Xu, Huan; Melbye, Mads; Lowe, William; Bouchard, Luigi; Oken, Emily; Pedersen, Ole B; Gudbjartsson, Daniel F; Erikstrup, Christian; Sørensen, Erik; Early Growth Genetics Consortium; Estonian Biobank Research Team; Danish Blood Donor Study Genomic Consortium; Lie, Rolv T; Teramo, Kari; Hallman, Mikko; Juliusdottir, Thorhildur; Hakonarson, Hakon; Ullum, Henrik; Hattersley, Andrew T; Sletner, Line; Merialdi, Mario; Rifas-Shiman, Sheryl L; Steingrimsdottir, Thora; Scholtens, Denise; Power, Christine; West, Jane; Nyegaard, Mette; Capra, John A; Skogholt, Anne H; Magnus, Per; Andreassen, Ole A; Thorsteinsdottir, Unnur; Grant, Struan F A; Qvigstad, Elisabeth; Pennell, Craig E; Hivert, Marie-France; Hayes, Geoffrey M; Jarvelin, Marjo-Riitta; McCarthy, Mark I; Lawlor, Deborah A; Nielsen, Henriette S; Mägi, Reedik; Rokas, Antonis; Hveem, Kristian; Stefansson, Kari; Feenstra, Bjarke; Njolstad, Pål; Muglia, Louis J; Freathy, Rachel M; Johanson, Stefan; Zhang, Ge; Jacobsson, Bo (2023-04-03)
Springer
03.04.2023
Solé-Navais, P., Flatley, C., Steinthorsdottir, V. et al. Genetic effects on the timing of parturition and links to fetal birth weight. Nat Genet 55, 559–567 (2023). https://doi.org/10.1038/s41588-023-01343-9
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© The Author(s) 2023, corrected publication 2023. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
https://creativecommons.org/licenses/by/4.0/
© The Author(s) 2023, corrected publication 2023. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
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Julkaisun pysyvä osoite on
https://urn.fi/URN:NBN:fi:oulu-202403272463
https://urn.fi/URN:NBN:fi:oulu-202403272463
Tiivistelmä
Abstract
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 seven 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.
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 seven 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.
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