Genetic effects on the timing of parturition and links to fetal birth weight: [Inkl. Correction]

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  • Pol Solé-Navais
  • Christopher Flatley
  • Valgerdur Steinthorsdottir
  • Marc Vaudel
  • Julius Juodakis
  • Jing Chen
  • Triin Laisk
  • Abigail L. LaBella
  • Westergaard, David
  • Jonas Bacelis
  • Ben Brumpton
  • Line Skotte
  • Maria C. Borges
  • Øyvind Helgeland
  • Anubha Mahajan
  • Matthias Wielscher
  • Frederick Lin
  • Catherine Briggs
  • Carol A. Wang
  • Gunn Helen Moen
  • Robin N. Beaumont
  • Jonathan P. Bradfield
  • Abin Abraham
  • Gudmar Thorleifsson
  • Maiken E. Gabrielsen
  • Ostrowski, Sisse Rye
  • Dominika Modzelewska
  • Ellen A. Nohr
  • Elina Hypponen
  • Amit Srivastava
  • Octavious Talbot
  • Catherine Allard
  • Scott M. Williams
  • Ramkumar Menon
  • Beverley M. Shields
  • Gardar Sveinbjornsson
  • Huan Xu
  • Mads Melbye
  • William Lowe
  • Luigi Bouchard
  • Emily Oken
  • Pedersen, Ole Birger Vesterager
  • Daniel F. Gudbjartsson
  • Christian Erikstrup
  • Erik Sørensen
  • Mark I. McCarthy
  • Rolv T. Lie
  • Henrik Ullum
  • Nyegaard, Mette
  • Nielsen, Henriette Svarre
  • Early Growth Genetics Consortium
  • Estonian Biobank Research Team
  • Danish Blood Donor Study Genomic Consortium

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.

Original languageEnglish
JournalNature Genetics
Volume55
Pages (from-to)559–567
ISSN1061-4036
DOIs
Publication statusPublished - 2023

Bibliographical note

Correction: 10.1038/s41588-023-01412-z
Link: https://www.nature.com/articles/s41588-023-01412-z
Publisher Copyright:
© 2023, The Author(s).

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