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Genetic effects on the timing of parturition and links to fetal 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...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group US
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10101852/ https://www.ncbi.nlm.nih.gov/pubmed/37012456 http://dx.doi.org/10.1038/s41588-023-01343-9 |
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| author | 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 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. Johansson, Stefan Zhang, Ge Jacobsson, Bo |
| author_facet | 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 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. Johansson, Stefan Zhang, Ge Jacobsson, Bo |
| author_sort | Solé-Navais, Pol |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-10101852 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2023 |
| publisher | Nature Publishing Group US |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-101018522023-04-15 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 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. Johansson, Stefan Zhang, Ge Jacobsson, Bo Nat Genet Article 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. Nature Publishing Group US 2023-04-03 2023 /pmc/articles/PMC10101852/ /pubmed/37012456 http://dx.doi.org/10.1038/s41588-023-01343-9 Text en © The Author(s) 2023, corrected publication 2023 https://creativecommons.org/licenses/by/4.0/Open Access 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/) . |
| spellingShingle | Article 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 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. Johansson, Stefan Zhang, Ge Jacobsson, Bo Genetic effects on the timing of parturition and links to fetal birth weight |
| title | Genetic effects on the timing of parturition and links to fetal birth weight |
| title_full | Genetic effects on the timing of parturition and links to fetal birth weight |
| title_fullStr | Genetic effects on the timing of parturition and links to fetal birth weight |
| title_full_unstemmed | Genetic effects on the timing of parturition and links to fetal birth weight |
| title_short | Genetic effects on the timing of parturition and links to fetal birth weight |
| title_sort | genetic effects on the timing of parturition and links to fetal birth weight |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10101852/ https://www.ncbi.nlm.nih.gov/pubmed/37012456 http://dx.doi.org/10.1038/s41588-023-01343-9 |
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