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Record W4362523789 · doi:10.1038/s41588-023-01343-9

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

2023· review· en· W4362523789 on OpenAlexaff
Pol Solé-Navais, Christopher Flatley, Valgerður Steinthórsdóttir, Marc Vaudel, Julius Juodakis, Jing Chen, Triin Laisk, Abigail L. LaBella, David Westergaard, Jonas Bačelis, Ben Brumpton, Line Skotte, Maria Carolina Borges, Øyvind Helgeland, Anubha Mahajan, Matthias Wielscher, Frederick T. J. Lin, Catherine Briggs, Carol A. Wang, Gunn-Helen Moen, Robin N. Beaumont, Jonathan P. Bradfield, Abin Abraham, Guðmar Þorleifsson, Maiken E. Gabrielsen, Sisse Rye Ostrowski, Dominika Modzelewska, Ellen A. Nøhr, Elina Hyppönen, Amit Srivastava, Octavious Talbot, Catherine Allard, Scott M. Williams, Ramkumar Menon, Beverley M. Shields, Garðar Sveinbjörnsson, Huan Xu, Mads Melbye, William L. Lowe, Luigi Bouchard, Emily Oken, Ole Birger Pedersen, Daníel F. Guðbjartsson, Christian Erikstrup, Erik Sørensen, Rolv T. Lie, Kari Teramo, Mikko Hallman, Thorhildur Juliusdottir, Hakon Hakonarson, Henrik Ullum, Andrew T. Hattersley, Line Sletner, Mario Merialdi, Sheryl L. Rifas‐Shiman, Þóra Steingrímsdóttir, Denise Scholtens, Christine Power, Jane West, Mette Nyegaard, John A Capra, Anne Heidi Skogholt, Per Magnus, Ole A. Andreassen, Unnur Thorsteinsdottir, Struan F.A. Grant, Elisabeth Qvigstad, Craig E. Pennell, Marie‐France Hivert, M. Geoffrey Hayes, Marjo‐Riitta Järvelin, Debbie A. Lawlor, Henriette Svarre Nielsen, Reedik Mägi, Antonis Rokas, Kristian Hveem, Kāri Stefánsson, Bjarke Feenstra, Pål R. Njølstad, Louis J Muglia, Rachel M. Freathy, Stefan Johansson, Ge Zhang, Bo Jacobsson

Bibliographic record

VenueNature Genetics · 2023
Typereview
Languageen
FieldMedicine
TopicPreterm Birth and Chorioamnionitis
Canadian institutionsCentre Intégré Universitaire de Santé et de Services Sociaux du Saguenay–Lac-Saint-JeanUniversité de SherbrookeCentre Hospitalier Universitaire de Sherbrooke
FundersNIHR Exeter Clinical Research FacilityEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentEuropean Regional Development FundNational Institute of Allergy and Infectious DiseasesMedical Research CouncilNorges ForskningsrådNovo Nordisk FondenDiabetesforbundetGöteborgs UniversitetUniversity of BristolNational Institute for Health and Care ResearchBritish Heart FoundationWellcome TrustNational Institutes of HealthVetenskapsrådetMarch of Dimes Foundation
KeywordsBiologyFetusPleiotropyGestational ageAllelePregnancyGestationBirth weightMaternal effectGeneticsObstetricsGeneMedicineOffspringPhenotype

Abstract

fetched live from OpenAlex

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.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.003
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.002
Threshold uncertainty score0.006

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.003
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0020.001
Bibliometrics0.0020.002
Science and technology studies0.0000.000
Scholarly communication0.0010.000
Open science0.0010.000
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0020.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.026
GPT teacher head0.313
Teacher spread0.287 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designNot applicable
Domainnot available
GenreReview

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations95
Published2023
Admission routes1
Has abstractyes

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