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

Autor: Solé-Navais P; Department of Obstetrics and Gynaecology, Sahlgrenska Academy, Institute of Clinical Science, University of Gothenburg, Gothenburg, Sweden. pol.sole.navais@gu.se., Flatley C; Department of Obstetrics and Gynaecology, Sahlgrenska Academy, Institute of Clinical Science, University of Gothenburg, Gothenburg, Sweden., Steinthorsdottir V; deCODE genetics/Amgen, Reykjavik, Iceland., Vaudel M; Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway., Juodakis J; Department of Obstetrics and Gynaecology, Sahlgrenska Academy, Institute of Clinical Science, University of Gothenburg, Gothenburg, Sweden., 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., Laisk T; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia., LaBella AL; Department of Biological Sciences, Vanderbilt University, Nashville, TN, USA., 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., Bacelis J; Department of Obstetrics and Gynaecology, Sahlgrenska Academy, Institute of Clinical Science, University of Gothenburg, Gothenburg, Sweden., Brumpton B; K.G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Norwegian University of Science and Technology, Trondheim, Norway., Skotte L; Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark., Borges MC; MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.; Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK., 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., Mahajan A; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.; Genentech, South San Francisco, CA, USA., 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., Lin F; Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Briggs C; Department of Population Medicine, Harvard Medical School, Harvard Pilgrim Health Care Institute, Boston, MA, USA., 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., 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., Beaumont RN; Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter, UK., Bradfield JP; Quantinuum Research LLC, Wayne, PA, USA., Abraham A; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Thorleifsson G; deCODE genetics/Amgen, Reykjavik, Iceland., Gabrielsen ME; K.G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Norwegian University of Science and Technology, Trondheim, Norway., Ostrowski SR; Department of Clinical Immunology, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Modzelewska D; Department of Obstetrics and Gynaecology, Sahlgrenska Academy, Institute of Clinical Science, University of Gothenburg, Gothenburg, Sweden., Nohr EA; Research Unit of Gynecology and Obstetrics, Institute of Clinical Research, University of Southern Denmark, Odense, Denmark., 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., 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., Talbot O; Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Allard C; Centre de recherche du Centre hospitalier universitaire de Sherbrooke (CHUS), Sherbrooke, Québec, Canada., Williams SM; Department of Population and Quantitative Health Sciences, School of Medicine, Case Western Reserve University, Cleveland, OH, USA., Menon R; Department of Obstetrics and Gynaecology, University of Texas Medical Branch, Galveston, TX, USA., Shields BM; Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter, UK., Sveinbjornsson G; deCODE genetics/Amgen, Reykjavik, Iceland., 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., 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., Lowe W Jr; Northwestern University Feinberg School of Medicine, Chicago, IL, USA., 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., Oken E; Department of Population Medicine, Harvard Medical School, Harvard Pilgrim Health Care Institute, Boston, MA, USA., Pedersen OB; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.; Department of Clinical Immunology, Zealand University Hospital, Køge, Denmark., Gudbjartsson DF; deCODE genetics/Amgen, Reykjavik, Iceland.; School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland., Erikstrup C; Department of Clinical Immunology, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Medicine, Faculty of Health, University of Aarhus, Aarhus, Denmark., Sørensen E; Department of Clinical Immunology, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark., 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., Teramo K; Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Helsinki, Finland.; University of Helsinki, Helsinki, Finland., 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., Juliusdottir T; deCODE genetics/Amgen, Reykjavik, Iceland., 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., Ullum H; State Serum Institute, Copenhagen, Denmark., Hattersley AT; Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter, UK., Sletner L; Department of Pediatric and Adolescents Medicine, Akershus University Hospital, Lørenskog, Norway., Merialdi M; Maternal Newborn Health Innovations, PBC, Geneva, Switzerland., Rifas-Shiman SL; Department of Population Medicine, Harvard Medical School, Harvard Pilgrim Health Care Institute, Boston, MA, USA., Steingrimsdottir T; Faculty of Medicine, University of Iceland, Reykjavik, Iceland.; Department of Obstetrics and Gynecology, Landspitali - The National University Hospital of Iceland, Reykjavik, Iceland., Scholtens D; Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Power C; Population, Policy, Practice. Great Ormond Street Institute of Child Health, University College London, London, UK., West J; Bradford Institute for Health Research, Bradford Teaching Hospitals NHS Foundation Trust, Bradford, UK., Nyegaard M; Department of Health Science and Technology, Aalborg University, Aalborg, Denmark., Capra JA; Bakar Computational Health Sciences Institute and Department of Epidemiology and Statistics, University of California San Francisco, San Francisco, CA, USA., Skogholt AH; K.G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Norwegian University of Science and Technology, Trondheim, Norway., Magnus P; Centre for Fertility and Health, Norwegian Institute of Public Health, Oslo, Norway., 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., Thorsteinsdottir U; deCODE genetics/Amgen, Reykjavik, Iceland.; Faculty of Medicine, University of Iceland, Reykjavik, Iceland., 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., 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., 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., 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., Hayes GM; Northwestern University Feinberg School of Medicine, Chicago, IL, USA., 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., McCarthy MI; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.; Genentech, South San Francisco, CA, USA., 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., 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., Mägi R; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia., 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., 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., Stefansson K; deCODE genetics/Amgen, Reykjavik, Iceland.; Faculty of Medicine, University of Iceland, Reykjavik, Iceland., Feenstra B; Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark., Njolstad P; Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway.; Children and Youth Clinic, Haukeland University Hospital, Bergen, Norway., 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., 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., Johansson S; Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway.; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., 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., 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.
Jazyk: angličtina
Zdroj: Nature genetics [Nat Genet] 2023 Apr; Vol. 55 (4), pp. 559-567. Date of Electronic Publication: 2023 Apr 03.
DOI: 10.1038/s41588-023-01343-9
Abstrakt: 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.
(© 2023. The Author(s).)
Databáze: MEDLINE
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