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Record W2910645688 · doi:10.7554/elife.39856

Genomics of 1 million parent lifespans implicates novel pathways and common diseases and distinguishes survival chances

2019· article· en· W2910645688 on OpenAlexaff
Paul R. H. J. Timmers, Ninon Mounier, Kristi Läll, Krista Fischer, Ning Zheng, Xiao Feng, Andrew D. Bretherick, David W. Clark, Mawussé Agbessi, Habibul Ahsan, Isabel Alves, Anand Kumar Andiappan, Philip Awadalla, Alexis Battle, Dorret I. Boomsma, Mark Christiansen, Annique Claringbould, Patrick Deelen, Jenny van Dongen, Marie-Julie Favé, Lude Franke, T Frayling, Sina A. Gharib, Greg Gibson, Rick Jansen, A Kalnapenkis, Silva Kasela, Jarno L. T. Kettunen, Y Kim, Holger Kirsten, Péter Kovács, Knut Krohn, Viktorija Kukushkina, Zoltán Kutalik, Mika Kähönen, B Lee, Terho Lehtimäki, Markus Loeffler, Urko M. Marigorta, Andres Metspalu, Joyce B. J. van Meurs, Lili Milani, Martina Müller‐Nurasyid, Matthias Nauck, Michel G. Nivard, Brenda W.J.H. Penninx, Markus Perola, Natalia Pervjakova, Brandon L. Pierce, Joseph E. Powell, Holger Prokisch, BM Psaty, Olli Raitakari, Susan M. Ring, Samuli Ripatti, Olaf Rötzschke, Sina Rüeger, A Saha, Markus Scholz, Katharina Schramm, Ilkka Seppälä, Michael Stümvoll, Patrick F. Sullivan, Alexander Teumer, Joachim Thiery, Anke Tönjes, Joost Verlouw, Peter M. Visscher, Urmo Võsa, Uwe Völker, Hanieh Yaghootkar, Biao Zeng, F Zhang, Xia Shen, Tõnu Esko, James F. Wilson, Peter K. Joshi

Bibliographic record

VenueeLife · 2019
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsOntario Institute for Cancer Research
FundersEstonian Research Competency CouncilSystemsX.chTartu ÜlikoolSvenska Forskningsrådet FormasMedical Research CouncilWellcomeAXA Research FundNational Institute of Diabetes and Digestive and Kidney DiseasesNational Heart, Lung, and Blood InstituteSchweizerischer Nationalfonds zur Förderung der Wissenschaftlichen ForschungWellcome Trust
KeywordsBiologyGenomicsComputational biologyGeneticsEvolutionary biologyDevelopmental biologySystems biologyBioinformaticsGenomeGene

Abstract

fetched live from OpenAlex

We use a genome-wide association of 1 million parental lifespans of genotyped subjects and data on mortality risk factors to validate previously unreplicated findings near CDKN2B-AS1, ATXN2/BRAP, FURIN/FES, ZW10, PSORS1C3, and 13q21.31, and identify and replicate novel findings near ABO, ZC3HC1, and IGF2R. We also validate previous findings near 5q33.3/EBF1 and FOXO3, whilst finding contradictory evidence at other loci. Gene set and cell-specific analyses show that expression in foetal brain cells and adult dorsolateral prefrontal cortex is enriched for lifespan variation, as are gene pathways involving lipid proteins and homeostasis, vesicle-mediated transport, and synaptic function. Individual genetic variants that increase dementia, cardiovascular disease, and lung cancer – but not other cancers – explain the most variance. Resulting polygenic scores show a mean lifespan difference of around five years of life across the deciles. Editorial note: This article has been through an editorial process in which the authors decide how to respond to the issues raised during peer review. The Reviewing Editor's assessment is that all the issues have been addressed (<xref ref-type="decision-letter" rid="SA1">see decision letter</xref>).

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)0.002
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: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.004
Threshold uncertainty score0.015

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0020.003
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0010.000
Open science0.0000.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0040.001

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 head0.020
GPT teacher head0.257
Teacher spread0.237 · 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 designObservational
Domainnot available
GenreEmpirical

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

Citations311
Published2019
Admission routes1
Has abstractyes

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