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Genetic effects on the timing of parturition and links to fetal birth weight
Nature Genetics ( IF 31.7 ) Pub Date : 2023-04-03 , DOI: 10.1038/s41588-023-01343-9
Pol Solé-Navais 1 , Christopher Flatley 1 , Valgerdur Steinthorsdottir 2 , Marc Vaudel 3 , Julius Juodakis 1 , Jing Chen 4, 5 , Triin Laisk 6 , Abigail L LaBella 7 , David Westergaard 8, 9, 10 , Jonas Bacelis 1 , Ben Brumpton 11 , Line Skotte 12 , Maria C Borges 13, 14 , Øyvind Helgeland 3, 15 , Anubha Mahajan 16, 17 , Matthias Wielscher 18, 19 , Frederick Lin 20 , Catherine Briggs 21 , Carol A Wang 22, 23 , Gunn-Helen Moen 11, 14, 24, 25 , Robin N Beaumont 26 , Jonathan P Bradfield 27 , Abin Abraham 28 , Gudmar Thorleifsson 2 , Maiken E Gabrielsen 11 , Sisse R Ostrowski 29, 30 , Dominika Modzelewska 1 , Ellen A Nohr 31 , Elina Hypponen 32, 33 , Amit Srivastava 5, 34 , Octavious Talbot 20 , Catherine Allard 35 , Scott M Williams 36 , Ramkumar Menon 37 , Beverley M Shields 26 , Gardar Sveinbjornsson 2 , Huan Xu 5, 34 , Mads Melbye 11, 30, 38, 39 , William Lowe 20 , Luigi Bouchard 40, 41 , Emily Oken 21 , Ole B Pedersen 30, 42 , Daniel F Gudbjartsson 2, 43 , Christian Erikstrup 44, 45 , Erik Sørensen 29 , , , , Rolv T Lie 38, 46 , Kari Teramo 47, 48 , Mikko Hallman 49, 50 , Thorhildur Juliusdottir 2 , Hakon Hakonarson 51, 52, 53, 54 , Henrik Ullum 55 , Andrew T Hattersley 26 , Line Sletner 56 , Mario Merialdi 57 , Sheryl L Rifas-Shiman 21 , Thora Steingrimsdottir 58, 59 , Denise Scholtens 20 , Christine Power 60 , Jane West 61 , Mette Nyegaard 62 , John A Capra 63 , Anne H Skogholt 11 , Per Magnus 38 , Ole A Andreassen 24, 64, 65 , Unnur Thorsteinsdottir 2, 58 , Struan F A Grant 52, 66, 67, 68 , Elisabeth Qvigstad 24, 69 , Craig E Pennell 22, 23 , Marie-France Hivert 21, 70 , Geoffrey M Hayes 20 , Marjo-Riitta Jarvelin 18, 71, 72, 73 , Mark I McCarthy 16, 17 , Deborah A Lawlor 13, 14, 74 , Henriette S Nielsen 9, 30, 75 , Reedik Mägi 6 , Antonis Rokas 7, 76, 77 , Kristian Hveem 11, 78, 79 , Kari Stefansson 2, 58 , Bjarke Feenstra 12 , Pål Njolstad 3, 80 , Louis J Muglia 5, 34 , Rachel M Freathy 13, 26 , Stefan Johansson 3, 81 , Ge Zhang 5, 34 , Bo Jacobsson 1, 15
Affiliation  

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.



中文翻译:


遗传对分娩时间的影响以及与胎儿出生体重的联系



分娩时间对于新生儿的生存和婴儿的健康至关重要。然而,其遗传基础在很大程度上仍未得到解决。我们提出了妊娠持续时间的母亲全基因组荟萃分析( n = 195,555),确定了 22 个相关基因座(24 个独立变异)和分娩期间差异表达的基因的富集。对早产的荟萃分析(18,797 例,260,246 例对照)揭示了 6 个相关基因座以及与妊娠持续时间的巨大遗传相似性。对父母传播和非传播等位基因的分析 ( n = 136,833) 显示,15 个妊娠持续时间遗传变异通过母体基因组起作用,而 7 个同时通过母体和胎儿基因组起作用,2 个仅通过胎儿基因组起作用。最后,母体对妊娠持续时间的影响与胎儿对出生体重的影响表现出拮抗多效性的迹象:增加妊娠持续时间的母体等位基因对胎儿出生体重具有负面影响。本研究提供了关于遗传对分娩时间的影响以及妊娠持续时间和出生体重之间复杂的母婴关系的见解。

更新日期:2023-04-03
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