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

Pregnancy Infant, Newborn Female Humans Birth Weight / genetics Parturition / genetics Premature Birth / genetics Gestational Age

Journal

Nature genetics
ISSN: 1546-1718
Titre abrégé: Nat Genet
Pays: United States
ID NLM: 9216904

Informations de publication

Date de publication:
04 2023
Historique:
received: 04 05 2022
accepted: 22 02 2023
medline: 17 4 2023
pubmed: 4 4 2023
entrez: 3 4 2023
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1038/s41588-023-01343-9 PMID: 37012456 PMC: PMC10101852
pubmed: 37012456
doi: 10.1038/s41588-023-01343-9
pii: 10.1038/s41588-023-01343-9
pmc: PMC10101852
doi:

Types de publication

Meta-Analysis Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

559-567

Subventions

Organisme : Wellcome Trust
ID : WT104150
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/P014054/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_UU_00011/6
Pays : United Kingdom
Organisme : Wellcome Trust
ID : WT104150
Pays : United Kingdom
Organisme : NIAID NIH HHS
ID : R01 AI153356
Pays : United States
Organisme : Wellcome Trust
ID : WT220390
Pays : United Kingdom
Organisme : NICHD NIH HHS
ID : R01 HD034568
Pays : United States
Organisme : British Heart Foundation
ID : CH/F/20/90003
Pays : United Kingdom
Organisme : British Heart Foundation
ID : AA/18/7/34219
Pays : United Kingdom

Investigateurs

Mark I McCarthy (MI)

Commentaires et corrections

Type : ErratumIn

Informations de copyright

© 2023. The Author(s).

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Auteurs

Pol Solé-Navais (P)

Department of Obstetrics and Gynaecology, Sahlgrenska Academy, Institute of Clinical Science, University of Gothenburg, Gothenburg, Sweden. pol.sole.navais@gu.se.
ORCID: 0000-0002-3326-266X

Christopher Flatley (C)

Department of Obstetrics and Gynaecology, Sahlgrenska Academy, Institute of Clinical Science, University of Gothenburg, Gothenburg, Sweden.

Valgerdur Steinthorsdottir (V)

deCODE genetics/Amgen, Reykjavik, Iceland.
ORCID: 0000-0003-1846-6274

Marc Vaudel (M)

Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway.
ORCID: 0000-0003-1179-9578

Julius Juodakis (J)

Department of Obstetrics and Gynaecology, Sahlgrenska Academy, Institute of Clinical Science, University of Gothenburg, Gothenburg, Sweden.
ORCID: 0000-0001-5600-974X

Jing Chen (J)

Division of Biomedical Informatics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
ORCID: 0000-0002-6227-7393

Triin Laisk (T)

Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
ORCID: 0000-0003-1501-9030

Abigail L LaBella (AL)

Department of Biological Sciences, Vanderbilt University, Nashville, TN, USA.
ORCID: 0000-0003-0068-6703

David Westergaard (D)

Novo Nordisk Foundation Center for Protein Research, University of Copenhagen, Copenhagen, Denmark.
Department of Obstetrics and Gynaecology, Copenhagen University Hospital Hvidovre, Hvidovre, Denmark.
Methods and Analysis, Statistics Denmark, Copenhagen, Denmark.
ORCID: 0000-0003-0128-8432

Jonas Bacelis (J)

Department of Obstetrics and Gynaecology, Sahlgrenska Academy, Institute of Clinical Science, University of Gothenburg, Gothenburg, Sweden.
ORCID: 0000-0002-2450-732X

Ben Brumpton (B)

K.G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Norwegian University of Science and Technology, Trondheim, Norway.
ORCID: 0000-0002-3058-1059

Line Skotte (L)

Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark.
ORCID: 0000-0002-7398-1271

Maria C Borges (MC)

MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.
Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK.

Øyvind Helgeland (Ø)

Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway.
Department of Genetics and Bioinformatics, Health Data and Digitalization, Norwegian Institute of Public Health, Oslo, Norway.
ORCID: 0000-0002-5612-2985

Anubha Mahajan (A)

Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Genentech, South San Francisco, CA, USA.
ORCID: 0000-0001-5585-3420

Matthias Wielscher (M)

Department of Epidemiology and Biostatistics, MRC-PHE Centre for Environment and Health, School of Public Health, Imperial College London, London, UK.
Department of Dermatology, Medical University of Vienna, Vienna, Austria.
ORCID: 0000-0003-4138-1383

Frederick Lin (F)

Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
ORCID: 0000-0003-1670-6086

Catherine Briggs (C)

Department of Population Medicine, Harvard Medical School, Harvard Pilgrim Health Care Institute, Boston, MA, USA.

Carol A Wang (CA)

School of Medicine and Public Health, College of Health, Medicine and Wellbeing, The University of Newcastle, Callaghan, New South Wales, Australia.
Hunter Medical Research Institute, New Lambton Heights, New South Wales, Australia.
ORCID: 0000-0002-4301-3974

Gunn-Helen Moen (GH)

K.G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Norwegian University of Science and Technology, Trondheim, Norway.
Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK.
Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.
University of Queensland Diamantina Institute, University of Queensland, Woolloongabba, Australia.
ORCID: 0000-0002-8768-0904

Robin N Beaumont (RN)

Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter, UK.
ORCID: 0000-0003-0750-8248

Jonathan P Bradfield (JP)

Quantinuum Research LLC, Wayne, PA, USA.

Abin Abraham (A)

Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Gudmar Thorleifsson (G)

deCODE genetics/Amgen, Reykjavik, Iceland.
ORCID: 0000-0003-4623-9087

Maiken E Gabrielsen (ME)

K.G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Norwegian University of Science and Technology, Trondheim, Norway.

Sisse R Ostrowski (SR)

Department of Clinical Immunology, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
ORCID: 0000-0001-5288-3851

Dominika Modzelewska (D)

Department of Obstetrics and Gynaecology, Sahlgrenska Academy, Institute of Clinical Science, University of Gothenburg, Gothenburg, Sweden.

Ellen A Nohr (EA)

Research Unit of Gynecology and Obstetrics, Institute of Clinical Research, University of Southern Denmark, Odense, Denmark.

Elina Hypponen (E)

Australian Centre for Precision Health, Uni Clinical & Health Sciences, University of South Australia, Adelaide, Australia.
South Australian Health and Medical Research Institute, Adelaide, Australia.
ORCID: 0000-0003-3670-9399

Amit Srivastava (A)

Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Division of Human Genetics, Center for the Prevention of Preterm Birth, Perinatal Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

Octavious Talbot (O)

Northwestern University Feinberg School of Medicine, Chicago, IL, USA.

Catherine Allard (C)

Centre de recherche du Centre hospitalier universitaire de Sherbrooke (CHUS), Sherbrooke, Québec, Canada.
ORCID: 0000-0002-8829-4984

Scott M Williams (SM)

Department of Population and Quantitative Health Sciences, School of Medicine, Case Western Reserve University, Cleveland, OH, USA.
ORCID: 0000-0002-4835-9544

Ramkumar Menon (R)

Department of Obstetrics and Gynaecology, University of Texas Medical Branch, Galveston, TX, USA.

Beverley M Shields (BM)

Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter, UK.

Gardar Sveinbjornsson (G)

deCODE genetics/Amgen, Reykjavik, Iceland.
ORCID: 0000-0003-2429-9468

Huan Xu (H)

Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Division of Human Genetics, Center for the Prevention of Preterm Birth, Perinatal Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

Mads Melbye (M)

K.G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Norwegian University of Science and Technology, Trondheim, Norway.
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
Centre for Fertility and Health, Norwegian Institute of Public Health, Oslo, Norway.
Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.

William Lowe (W)

Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
ORCID: 0000-0001-9467-3422

Luigi Bouchard (L)

Department of Biochemistry and Functional Genomics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, Québec, Canada.
Clinical Department of Laboratory Medicine, Centre intégré universitaire de santé et de services sociaux (CIUSSS) du Saguenay-Lac-St-Jean - Hôpital Universitaire de Chicoutimi, Saguenay, Québec, Canada.

Emily Oken (E)

Department of Population Medicine, Harvard Medical School, Harvard Pilgrim Health Care Institute, Boston, MA, USA.

Ole B Pedersen (OB)

Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
Department of Clinical Immunology, Zealand University Hospital, Køge, Denmark.
ORCID: 0000-0003-2312-5976

Daniel F Gudbjartsson (DF)

deCODE genetics/Amgen, Reykjavik, Iceland.
School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland.
ORCID: 0000-0002-5222-9857

Christian Erikstrup (C)

Department of Clinical Immunology, Aarhus University Hospital, Aarhus, Denmark.
Department of Clinical Medicine, Faculty of Health, University of Aarhus, Aarhus, Denmark.
ORCID: 0000-0001-6551-6647

Erik Sørensen (E)

Department of Clinical Immunology, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.

Rolv T Lie (RT)

Centre for Fertility and Health, Norwegian Institute of Public Health, Oslo, Norway.
Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway.

Kari Teramo (K)

Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Helsinki, Finland.
University of Helsinki, Helsinki, Finland.

Mikko Hallman (M)

PEDEGO Research Unit and Medical Research Center Oulu, University of Oulu, Oulu, Finland.
Department of Children and Adolescents, Oulu University Hospital, Oulu, Finland.

Thorhildur Juliusdottir (T)

deCODE genetics/Amgen, Reykjavik, Iceland.

Hakon Hakonarson (H)

The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Division of Pulmonary Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Henrik Ullum (H)

State Serum Institute, Copenhagen, Denmark.

Andrew T Hattersley (AT)

Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter, UK.
ORCID: 0000-0001-5620-473X

Line Sletner (L)

Department of Pediatric and Adolescents Medicine, Akershus University Hospital, Lørenskog, Norway.

Mario Merialdi (M)

Maternal Newborn Health Innovations, PBC, Geneva, Switzerland.

Sheryl L Rifas-Shiman (SL)

Department of Population Medicine, Harvard Medical School, Harvard Pilgrim Health Care Institute, Boston, MA, USA.

Thora Steingrimsdottir (T)

Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
Department of Obstetrics and Gynecology, Landspitali - The National University Hospital of Iceland, Reykjavik, Iceland.

Denise Scholtens (D)

Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
ORCID: 0000-0002-8252-7863

Christine Power (C)

Population, Policy, Practice. Great Ormond Street Institute of Child Health, University College London, London, UK.

Jane West (J)

Bradford Institute for Health Research, Bradford Teaching Hospitals NHS Foundation Trust, Bradford, UK.
ORCID: 0000-0002-5770-8363

Mette Nyegaard (M)

Department of Health Science and Technology, Aalborg University, Aalborg, Denmark.
ORCID: 0000-0003-4973-8543

John A Capra (JA)

Bakar Computational Health Sciences Institute and Department of Epidemiology and Statistics, University of California San Francisco, San Francisco, CA, USA.

Anne H Skogholt (AH)

K.G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Norwegian University of Science and Technology, Trondheim, Norway.
ORCID: 0000-0001-7466-0405

Per Magnus (P)

Centre for Fertility and Health, Norwegian Institute of Public Health, Oslo, Norway.

Ole A Andreassen (OA)

Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.
NORMENT Centre, University of Oslo, Oslo, Norway.
Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
ORCID: 0000-0002-4461-3568

Unnur Thorsteinsdottir (U)

deCODE genetics/Amgen, Reykjavik, Iceland.
Faculty of Medicine, University of Iceland, Reykjavik, Iceland.

Struan F A Grant (SFA)

Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Center for Spatial and Functional Genomics Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Divisions of Human Genetics and Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Department of Genetics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
ORCID: 0000-0003-2025-5302

Elisabeth Qvigstad (E)

Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.
Department of Endocrinology, Morbid Obesity and Preventive Medicine, Oslo University Hospital, Oslo, Norway.

Craig E Pennell (CE)

School of Medicine and Public Health, College of Health, Medicine and Wellbeing, The University of Newcastle, Callaghan, New South Wales, Australia.
Hunter Medical Research Institute, New Lambton Heights, New South Wales, Australia.
ORCID: 0000-0002-0937-6165

Marie-France Hivert (MF)

Department of Population Medicine, Harvard Medical School, Harvard Pilgrim Health Care Institute, Boston, MA, USA.
Diabetes Unit, Massachusetts General Hospital, Boston, MA, USA.
ORCID: 0000-0001-7752-2585

Geoffrey M Hayes (GM)

Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
ORCID: 0000-0002-4617-3981

Marjo-Riitta Jarvelin (MR)

Department of Epidemiology and Biostatistics, MRC-PHE Centre for Environment and Health, School of Public Health, Imperial College London, London, UK.
Center for Life Course Health Research, Faculty of Medicine, University of Oulu, Oulu, Finland.
Biocenter of Oulu, University of Oulu, Linnanmaa, Oulu, Finland.
Department of Life Sciences, College of Health and Life Sciences, Brunel University London, Uxbridge, UK.
ORCID: 0000-0002-2149-0630

Mark I McCarthy (MI)

Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Genentech, South San Francisco, CA, USA.

Deborah A Lawlor (DA)

MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.
Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK.
NIHR Bristol Biomedical Research Centre, Bristol, UK.
ORCID: 0000-0002-6793-2262

Henriette S Nielsen (HS)

Department of Obstetrics and Gynaecology, Copenhagen University Hospital Hvidovre, Hvidovre, Denmark.
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
The Recurrent Pregnancy Loss Unit, The Capital Region, Copenhagen University Hospitals Rigshospitalet & Hvidovre Hospital, Hvidovre, Denmark.
ORCID: 0000-0003-2106-8103

Reedik Mägi (R)

Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
ORCID: 0000-0002-2964-6011

Antonis Rokas (A)

Department of Biological Sciences, Vanderbilt University, Nashville, TN, USA.
Department of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN, USA.
Vanderbilt Genetics Institute, Vanderbilt University, Nashville, TN, USA.
ORCID: 0000-0002-7248-6551

Kristian Hveem (K)

K.G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Norwegian University of Science and Technology, Trondheim, Norway.
HUNT Research Centre, Department of Public Health and Nursing, Norwegian University of Science and Technology, Levanger, Norway.
Department of Medicine, Levanger Hospital, Nord-Trøndelag Hospital Trust, Levanger, Norway.

Kari Stefansson (K)

deCODE genetics/Amgen, Reykjavik, Iceland.
Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
ORCID: 0000-0003-1676-864X

Bjarke Feenstra (B)

Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark.
ORCID: 0000-0003-1478-649X

Pål Njolstad (P)

Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway.
Children and Youth Clinic, Haukeland University Hospital, Bergen, Norway.
ORCID: 0000-0003-0304-6728

Louis J Muglia (LJ)

Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Division of Human Genetics, Center for the Prevention of Preterm Birth, Perinatal Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

Rachel M Freathy (RM)

MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.
Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter, UK.
ORCID: 0000-0003-4152-2238

Stefan Johansson (S)

Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway.
Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
ORCID: 0000-0002-2298-7008

Ge Zhang (G)

Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Division of Human Genetics, Center for the Prevention of Preterm Birth, Perinatal Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

Bo Jacobsson (B)

Department of Obstetrics and Gynaecology, Sahlgrenska Academy, Institute of Clinical Science, University of Gothenburg, Gothenburg, Sweden. bo.jacobsson@obgyn.gu.se.
Department of Genetics and Bioinformatics, Health Data and Digitalization, Norwegian Institute of Public Health, Oslo, Norway. bo.jacobsson@obgyn.gu.se.
ORCID: 0000-0001-5079-2374

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Classifications MeSH

questionsmedicales.fr › Phénomènes physiologiques des appareils urinaire et reproducteur › Phénomènes physiologiques de la reproduction › Reproduction › Grossesse › Genetic effects on the timing of parturition...
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Nouveau-né › Genetic effects on the timing of parturition...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Genetic effects on the timing of parturition...
questionsmedicales.fr › Phénomènes physiologiques › Croissance et développement › Croissance › Mensurations corporelles › Poids › Poids de naissance › Genetic effects on the timing of parturition...
questionsmedicales.fr › Phénomènes physiologiques des appareils urinaire et reproducteur › Phénomènes physiologiques de la reproduction › Reproduction › Grossesse › Parturition › Genetic effects on the timing of parturition...
questionsmedicales.fr › Maladies urogénitales › Maladies de l'appareil urogénital féminin et complications de la grossesse › Complications de la grossesse › Complications du travail obstétrical › Travail obstétrical prématuré › Naissance prématurée › Genetic effects on the timing of parturition...
questionsmedicales.fr › Phénomènes physiologiques des appareils urinaire et reproducteur › Phénomènes physiologiques de la reproduction › Âge gestationnel › Genetic effects on the timing of parturition...