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

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Název: Genetic effects on the timing of parturition and links to fetal birth weight
Autoři: Solé-Navais, Pol, Flatley, Christopher, Brumpton, Ben, Skotte, Line, Borges, Maria C., Helgeland, Øyvind, Mahajan, Anubha, Wielscher, Matthias, Lin, Frederick, Briggs, Catherine, Wang, Carol A., Moen, Gunn-Helen, Steinthorsdottir, Valgerdur, Beaumont, Robin N., Bradfield, JP, Abraham, A, Thorleifsson, G, Gabrielsen, ME, Ostrowski, SR, Modzelewska, D, Nohr, EA, Hypponen, E, Srivastava, A, Vaudel, Marc, Talbot, O, Allard, C, Williams, SM, Menon, R, Shields, BM, Sveinbjornsson, G, Xu, H, Melbye, M, Lowe, W, Bouchard, L, Juodakis, Julius, Oken, E, Pedersen, OB, Gudbjartsson, DF, Erikstrup, C, Sørensen, E, Early Growth Genetics Consortium, Estonian Biobank Research Team, Danish Blood Donor Study Genomic Consortium, Lie, RT, Teramo, K, Chen, Jing, Hallman, M, Juliusdottir, T, Hakonarson, H, Ullum, H, Hattersley, AT, Sletner, L, Merialdi, M, Rifas-Shiman, SL, Steingrimsdottir, T, Scholtens, D, Laisk, Triin, Power, C, West, J, Nyegaard, M, Capra, JA, Skogholt, AH, Magnus, P, Andreassen, OA, Thorsteinsdottir, U, Grant, SFA, Qvigstad, E, LaBella, Abigail L., Pennell, Craig E., Hivert, M-F, Hayes, GM, Jarvelin, M-R, McCarthy, MI, Lawlor, DA, Nielsen, HS, Mägi, R, Rokas, A, Hveem, K, Westergaard, David, Stefansson, K, Feenstra, B, Njolstad, P, Muglia, LJ, Freathy, RM, Johansson, S, Zhang, G, Jacobsson, B, Bacelis, Jonas
Přispěvatelé: Solé-Navais, Pol, Flatley, Christopher, Steinthorsdottir, Valgerdur, Vaudel, Marc, Jacobsson, Bo, Hypponen, Elina, Early Growth Genetics Consortium, Estonian Biobank Research Team, Danish Blood Donor Study Genomic Consortium, Clinicum, Department of Obstetrics and Gynecology, HUS Gynecology and Obstetrics, The University of Newcastle. College of Health, Medicine & Wellbeing, School of Medicine and Public Health
Zdroj: Nat Genet
Solé-Navais, P, Flatley, C, Steinthorsdottir, V, Vaudel, M, Juodakis, J, Chen, J, Laisk, T, LaBella, A L, Westergaard, D, Bacelis, J, Brumpton, B, Skotte, L, Borges, M C, Helgeland, Ø, Mahajan, A, Wielscher, M, Lin, F, Briggs, C, Wang, C A, Moen, G-H, Beaumont, R N, Bradfield, J P, Abraham, A, Thorleifsson, G, Gabrielsen, M E, Ostrowski, S R, Modzelewska, D, Nohr, E A, Hypponen, E, Srivastava, A, Talbot, O, Allard, C, Williams, S M, Menon, R, Shields, B M, Sveinbjornsson, G, Xu, H, Melbye, M, Lowe, W, Bouchard, L, Oken, E, Pedersen, O B, Gudbjartsson, D F, Erikstrup, C, Sørensen, E, Early Growth Genetics Consortium, Lie, R T, Teramo, K, Hallman, M, Juliusdottir, T, Hakonarson, H, Ullum, H, Hattersley, A T, Sletner, L, Merialdi, M, Rifas-Shiman, S L, Steingrimsdottir, T, Scholtens, D, Power, C, West, J, Nyegaard, M, Capra, J A, Skogholt, A H, Magnus, P, Andreassen, O A, Thorsteinsdottir, U, Grant, S F A, Qvigstad, E, Pennell, C E, Hivert, M-F, Hayes, G M, Jarvelin, M-R, McCarthy, M I, Lawlor, D A, Nielsen, H S, Mägi, R, Rokas, A, Hveem, K, Stefansson, K, Feenstra, B, Njolstad, P, Muglia, L J, Freathy, R M, Johanson, S, Zhang, G, Jacobsson, B, Estonian Biobank Research Team & Danish Blood Donor Study Genomic Cohort 2023, 'Genetic effects on the timing of parturition and links to fetal birth weight', Nature Genetics, vol. 55, no. 4, pp. 559-567. https://doi.org/10.1038/s41588-023-01343-9
Nature Genetics
Solé-Navais, P, Flatley, C, Steinthorsdottir, V, Vaudel, M, Juodakis, J, Chen, J, Laisk, T, LaBella, A L, Westergaard, D, Bacelis, J, Brumpton, B, Skotte, L, Borges, M C, Helgeland, Ø, Mahajan, A, Wielscher, M, Lin, F, Briggs, C, Wang, C A, Moen, G-H, Beaumont, R N, Bradfield, J P, Abraham, A, Thorleifsson, G, Gabrielsen, M E, Ostrowski, S R, Modzelewska, D, Nohr, E A, Hypponen, E, Srivastava, A, Talbot, O, Allard, C, Williams, S M, Menon, R, Shields, B M, Sveinbjornsson, G, Xu, H, Melbye, M, Lowe, W, Bouchard, L, Oken, E, Pedersen, O B, Gudbjartsson, D F, Erikstrup, C, Sørensen, E, Lie, R T, Teramo, K, Nyegaard, M, Nielsen, H S, Jacobsson, B & Early Growth Genetics Consortium 2023, 'Genetic effects on the timing of parturition and links to fetal birth weight', Nature Genetics, vol. 55, no. 4, pp. 559-567. https://doi.org/10.1038/s41588-023-01343-9
559–567
Informace o vydavateli: Cold Spring Harbor Laboratory, 2022.
Rok vydání: 2022
Témata: 0301 basic medicine, Birth Weight/genetics, fetal birth weight, Gestational Age, fetal effects, Genome-wide association studies, Article, Association, Heritability, 03 medical and health sciences, Pregnancy, Genetics research, Humans, Birth Weight, genes, infant health, 2. Zero hunger, 0303 health sciences, Variants, Infant, Newborn, Parturition, Infant, timing of parturition, gestational duration, Premature Birth/genetics, Newborn, 3. Good health, Genetics, developmental biology, physiology, Parturition/genetics, Premature Birth, Female, genetic effects, name=Bristol Population Health Science Institute
Popis: 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 (cases = 18,797, controls = 260,246) revealed 6 associated loci, and large genetic similarities with gestational duration. Analysis of the parental transmitted and non-transmitted alleles (n = 136,833) shows that 15 of the gestational duration genetic variants act through the maternal genome, while seven act both through the maternal and fetal, and two 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.
Druh dokumentu: Article
Other literature type
Popis souboru: application/pdf
ISSN: 1546-1718
1061-4036
DOI: 10.1101/2022.05.04.22274624
DOI: 10.1038/s41588-023-01343-9
DOI: 10.5281/zenodo.7311977
DOI: 10.6084/m9.figshare.c.5304500.v1
Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/37012456
https://hdl.handle.net/11250/3082996
https://hdl.handle.net/11541.2/33798
http://hdl.handle.net/10138/563450
https://pure.au.dk/portal/en/publications/3d84a2da-901b-4d34-a25e-d2a888758c69
https://portal.findresearcher.sdu.dk/da/publications/cc41ab1c-cf1a-412a-8bf2-eda9ea190c5b
https://doi.org/10.1038/s41588-023-01343-9
https://pure.au.dk/portal/en/publications/3d84a2da-901b-4d34-a25e-d2a888758c69
https://doi.org/10.1038/s41588-023-01343-9
https://pure.au.dk/ws/files/411416306/s41588-023-01343-9.pdf
http://www.scopus.com/inward/record.url?scp=85151699870&partnerID=8YFLogxK
Rights: CC BY
URL: http://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/ (http://creativecommons.org/licenses/by/4.0/) .
Přístupové číslo: edsair.doi.dedup.....31383b4b3c459736c71402af9cb247ad
Databáze: OpenAIRE
Popis
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 (cases = 18,797, controls = 260,246) revealed 6 associated loci, and large genetic similarities with gestational duration. Analysis of the parental transmitted and non-transmitted alleles (n = 136,833) shows that 15 of the gestational duration genetic variants act through the maternal genome, while seven act both through the maternal and fetal, and two 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.
ISSN:15461718
10614036
DOI:10.1101/2022.05.04.22274624