Evidence map›Paper›PMID 25078964›Full record

SynthesisPLoS genetics2014

Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index.

Clive J Hoggart, Giulia Venturini, Massimo Mangino, Felicia Gomez, Giulia Ascari, Jing Hua Zhao, Alexander Teumer, Thomas W Winkler, Natalia Tšernikova, Jian'an Luan and 76 more

Open access · goldAbstract readMeta-Analysis
In one paragraph

Synthesis in PLoS genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
39citing papers in PubMed, 2 pooled it
7.5field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

39 citing papers in PubMed, 2 syntheses or guidelines pooled it, 81 citations in OpenAlex.

  1. Genome-Wide Search for Nonadditive Allele Effects IdentifiesJournal of the American Heart Association · 2024
    Pooled it
  2. Pooled it
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  9. Parent-of-Origin inference for biobanks.Nature communications · 2022
    Article
  10. Anti-obesity drug discovery: advances and challenges.Nature reviews. Drug discovery · 2022
    Review
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  13. Review
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  17. TASK-1 and TASK-3 channels modulate pressure overload-induced cardiac remodeling and dysfunction.American journal of physiology. Heart and circulatory physiology · 2020
    Article
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  19. Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

86 authors at 20 institutions in 11 countries.

Clive J HoggartDepartment of Genomics of Common Disease, Imperial College London, London, United Kingdom.
Giulia VenturiniDepartment of Medical Genetics, University of Lausanne, Lausanne, Switzerland.
Massimo ManginoDepartment of Twin Research & Genetic Epidemiology, King's College London, London, United Kingdom.
Felicia GomezDepartment of Genetics, Division of Statistical Genomics, Washington University School of Medicine in St. Louis, St. Louis, Missouri, United States of America.
Giulia AscariDepartment of Medical Genetics, University of Lausanne, Lausanne, Switzerland.
Jing Hua ZhaoMRC-Epidemiology Unit, University of Cambridge, Cambridge, United Kingdom.
Alexander TeumerInterfaculty Institute for Genetics and Functional Genomics, University Medicine Greifswald, Greifswald, Germany.
Thomas W WinklerDepartment of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.
Natalia TšernikovaEstonian Genome Center, University of Tartu, Tartu, Estonia; Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.
Jian'an LuanMRC-Epidemiology Unit, University of Cambridge, Cambridge, United Kingdom.
Evelin MihailovEstonian Genome Center, University of Tartu, Tartu, Estonia; Estonian Biocentre, Tartu, Estonia.
Georg B EhretMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Center for Complex Disease Genomics, Baltimore, Maryland, United States of America; Cardiology, Geneva University Hospitals, Geneva, Switzerland.
Weihua ZhangEpidemiology and Biostatistics, School of Public Health, Imperial College London, London, United Kingdom.
David LamparterDepartment of Medical Genetics, University of Lausanne, Lausanne, Switzerland; Swiss Institute of Bioinformatics, Lausanne, Switzerland.
Tõnu EskoCenter for Basic and Translational Obesity Research and Divisions of Endocrinology and Genetics, Boston Children's Hospital, Boston, Massachusetts, United States of America; Metabolism Initiative and Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America; Department of Genetics, Harvard Medical School, Boston, Massachusetts, United States of America.
Aurelien MacéDepartment of Medical Genetics, University of Lausanne, Lausanne, Switzerland; Swiss Institute of Bioinformatics, Lausanne, Switzerland.
Sina RüegerDepartment of Medical Genetics, University of Lausanne, Lausanne, Switzerland; Swiss Institute of Bioinformatics, Lausanne, Switzerland.
Pierre-Yves BochudInfectious Diseases Service, Department of Medicine, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland.
Matteo BarcellaDepartment of Health Sciences, University of Milan, Milan, Italy.
Yves DauvilliersINSERM-U1061, Montpellier, France; National Reference Network for Orphan Diseases (Narcolepsy and Idiopathic Hypersomnia), Department of Neurology, Gui-de-Chauliac Hospital, Montpellier, France.
Beben BenyaminQueensland Brain Institute, University of Queensland, Brisbane, Australia; Genetic Epidemiology, QIMR Berghofer Institute of Medical Research, Brisbane, Australia.
David M EvansMRC Integrative Epidemiology Unit, University of Bristol, Bristol, United Kingdom; School of Social and Community Medicine, University of Bristol, Bristol, United Kingdom; Diamantina Institute, Translational Research Institute, University of Queensland, Brisbane, Australia.
Caroline HaywardMRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, Scotland, United Kingdom.
Mary F LopezCenter for Basic and Translational Obesity Research and Divisions of Endocrinology and Genetics, Boston Children's Hospital, Boston, Massachusetts, United States of America; Metabolism Initiative and Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America; Department of Medicine, Harvard Medical School, Boston, Massachusetts, United States of America.
Lude FrankeDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Alessia RussoGenomic Variation in Human Populations and Complex Diseases Unit, Human Genetics Foundation and Dept. of Medical Sciences, University of Turin, Turin, Italy.
Iris M HeidDepartment of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.
Erika SalviDepartment of Health Sciences, University of Milan, Milan, Italy.
Sailaja VendantamCenter for Basic and Translational Obesity Research and Divisions of Endocrinology and Genetics, Boston Children's Hospital, Boston, Massachusetts, United States of America; Metabolism Initiative and Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America.
Dan E ArkingMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Center for Complex Disease Genomics, Baltimore, Maryland, United States of America.
Eric BoerwinkleHuman Genetics Center, Houston, Texas, United States of America.
John C ChambersEpidemiology and Biostatistics, School of Public Health, Imperial College London, London, United Kingdom.
Giovanni FioritoGenomic Variation in Human Populations and Complex Diseases Unit, Human Genetics Foundation and Dept. of Medical Sciences, University of Turin, Turin, Italy.
Harald GrallertResearch Unit Molecular Epidemiology, Helmholtz Zentrum München, Neuherberg, Germany.
Simonetta GuarreraGenomic Variation in Human Populations and Complex Diseases Unit, Human Genetics Foundation, Turin, Italy.
Georg HomuthInterfaculty Institute for Genetics and Functional Genomics, University Medicine Greifswald, Greifswald, Germany.
Jennifer E HuffmanMRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, Scotland, United Kingdom.
David PorteousCentre for Molecular Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, Scotland, United Kingdom.
Generation Scotland Consortium
LifeLines Cohort study
GIANT Consortium
Darius MoradpourDepartment of Medicine, Service of Gastroenterology and Hepatology, Lausanne, Switzerland.
Alex IranzoNeurology Service, Hospital Clinic, Barcelona, Spain.
Johannes HebebrandDepartment of Child and Adolescent Psychiatry, University of Duisburg-Essen, Essen, Germany.
John P KempMRC Integrative Epidemiology Unit, University of Bristol, Bristol, United Kingdom; School of Social and Community Medicine, University of Bristol, Bristol, United Kingdom.
Gert J LammersDepartment of Neurology, Leiden University Medical Centre, Leiden, The Netherlands; Sleep Wake Center SEIN, Heemstede, The Netherlands.
Vincent AubertDivision of Immunology and Allergy, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland.
Markus H HeimDepartment of Gastroenterology, University Hospital Basel, Basel, Switzerland.
Nicholas G MartinGenetic Epidemiology, QIMR Berghofer Institute of Medical Research, Brisbane, Australia.
Grant W MontgomeryMolecular Epidemiology, QIMR Berghofer Institute of Medical Research, Brisbane, Australia.
Rosa Peraita-AdradosSleep and Epilepsy Unit - Clinical Neurophysiology Department, Gregorio Marañón University Hospital, Madrid, Spain.
Joan SantamariaNeurology Service, Hospital Clinic, Barcelona, Spain.
Francesco NegroService of Gastroenterology and Hepatology, Service of Clinical Pathology, Geneva, Switzerland.
Carsten O SchmidtInstitute for Community Medicine, University Medicine Greifswald, Greifswald, Germany.
Robert A ScottMRC-Epidemiology Unit, University of Cambridge, Cambridge, United Kingdom.
Tim D SpectorDepartment of Twin Research & Genetic Epidemiology, King's College London, London, United Kingdom.
Konstantin StrauchInstitute of Genetic Epidemiology, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany; Institute of Medical Informatics, Biometry and Epidemiology, Chair of Genetic Epidemiology, Ludwig-Maximilians-Universität, Munich, Germany.
Henry VölzkeInstitute for Community Medicine, University Medicine Greifswald, Greifswald, Germany.
Nicholas J WarehamMRC-Epidemiology Unit, University of Cambridge, Cambridge, United Kingdom.
Wei YuanDepartment of Twin Research & Genetic Epidemiology, King's College London, London, United Kingdom.
Jordana T BellDepartment of Twin Research & Genetic Epidemiology, King's College London, London, United Kingdom.
Aravinda ChakravartiMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Center for Complex Disease Genomics, Baltimore, Maryland, United States of America.
Jaspal S KoonerCardiovascular Science, National Heart & Lung Institute, Imperial College London, London, United Kingdom.
Annette PetersInstitute of Epidemiology II, Helmholtz Zentrum München, Neuherberg, Germany; Deutsches Zentrum für Diabetes, Neuherberg, Germany.
Giuseppe MatulloGenomic Variation in Human Populations and Complex Diseases Unit, Human Genetics Foundation and Dept. of Medical Sciences, University of Turin, Turin, Italy.
Henri WallaschofskiInstitute of Clinical Chemistry and Laboratory Medicine, University Medicine Greifswald, Greifswald, Germany.
John B WhitfieldGenetic Epidemiology, QIMR Berghofer Institute of Medical Research, Brisbane, Australia.
Fred PaccaudInstitute of Social and Preventive Medicine (IUMSP), Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland.
Peter VollenweiderDepartment of Internal Medicine, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland.
Sven BergmannDepartment of Medical Genetics, University of Lausanne, Lausanne, Switzerland; Swiss Institute of Bioinformatics, Lausanne, Switzerland.
Jacques S BeckmannSwiss Institute of Bioinformatics, Lausanne, Switzerland.
Mehdi TaftiCenter for Integrative Genomics (CIG), University of Lausanne, Lausanne, Switzerland; Center for Investigation and Research in Sleep (CIRS), Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland.
Nicholas D HastieMRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, Scotland, United Kingdom.
Daniele CusiDepartment of Health Sciences, University of Milan, Milan, Italy.
Murielle BochudInstitute of Social and Preventive Medicine (IUMSP), Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland.
Timothy M FraylingUniversity of Exeter Medical School, University of Exeter, Exeter, United Kingdom.
Andres MetspaluEstonian Genome Center, University of Tartu, Tartu, Estonia; Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia; Estonian Biocentre, Tartu, Estonia.
Marjo-Riitta JarvelinInstitute of Health Sciences, University of Oulu, Oulu, Finland; Biocenter Oulu, University of Oulu, Oulu, Finland; Department of Children and Young People and Families, National Institute for Health and Welfare, Oulu, Finland; Department of Epidemiology and Biostatistics, School of Public Health, MRC-HPA Centre for Environment and Health, Faculty of Medicine, Imperial College London, London, United Kingdom; Unit of Primary Care, Oulu University Hospital, Oulu, Finland.
André ScheragInstitute for Medical Informatics, Biometry and Epidemiology, University Hospital of Essen, University of Duisburg-Essen, Essen, Germany; Clinical Epidemiology, Integrated Research and Treatment Center, Center for Sepsis Control and Care (CSCC), Jena University Hospital, Jena, Germany.
George Davey SmithMRC Integrative Epidemiology Unit, University of Bristol, Bristol, United Kingdom; School of Social and Community Medicine, University of Bristol, Bristol, United Kingdom.
Ingrid B BoreckiDepartment of Genetics, Division of Statistical Genomics, Washington University School of Medicine in St. Louis, St. Louis, Missouri, United States of America.
Valentin RoussonInstitute of Social and Preventive Medicine (IUMSP), Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland.
Joel N HirschhornCenter for Basic and Translational Obesity Research and Divisions of Endocrinology and Genetics, Boston Children's Hospital, Boston, Massachusetts, United States of America; Metabolism Initiative and Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America; Department of Genetics, Harvard Medical School, Boston, Massachusetts, United States of America.
Carlo RivoltaDepartment of Medical Genetics, University of Lausanne, Lausanne, Switzerland.
Ruth J F LoosMRC-Epidemiology Unit, University of Cambridge, Cambridge, United Kingdom; The Charles Bronfman Institute of Personalized Medicine, The Icahn School of Medicine at Mount Sinai, New York, New York, United States of America; The Mindich Child Health and Development Institute, The Icahn School of Medicine at Mount Sinai, New York, New York, United States of America; The Genetics of Obesity and Related Metabolic Traits Program, The Icahn School of Medicine at Mount Sinai, New York, New York, United States of America.
Zoltán KutalikDepartment of Medical Genetics, University of Lausanne, Lausanne, Switzerland; Swiss Institute of Bioinformatics, Lausanne, Switzerland; Institute of Social and Preventive Medicine (IUMSP), Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland.
SIB Swiss Institute of Bioinformatics · CHKing's College London · GBQIMR Berghofer Medical Research Institute · AUUniversitätsmedizin Greifswald · DEUniversity Hospital of Lausanne · CHUniversity of Cambridge · GBBroad Institute · USJohns Hopkins University · USUniversity of Milan · ITHelmholtz Zentrum München · DEHospital Clínic de Barcelona · ESInstitute of Genetics and Cancer · GBItalian institute for Genomic Medicine · ITWashington University in St. Louis · USImperial College London · GBLeiden University Medical Center · NLOulu University Hospital · FIUniversity Medical Center Groningen · NLUniversity of Bristol · GBUniversity of Exeter · GB

Funding

Institute for Clinical and Translational Research (UL1)UL1RR025005 · NCRR · JOHNS HOPKINS UNIVERSITY · PI FORD, DANIEL ERNEST · 2007 to 2011
$75.8M
Genome-Wide Association Analysis in Essential Hypertension (FEHGAS study)R01HL086694 · NHLBI · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI ARAVINDA CHAKRAVARTI · 2007 to 2026
$21.2M
Epidemiology of Venous Thrombosis & Pulmonary EmbolismR01HL059367 · NHLBI · UNIVERSITY OF MINNESOTA TWIN CITIES · PI TANG, WEIHONG · 1998 to 2024
$11.8M
THE GENETICS OF VULNERABILITY TO NICOTINE ADDICTIONSR01DA012854 · NIDA · WASHINGTON UNIVERSITY · PI MADDEN, PAMELA ANN · 2000 to 2013
$10.4M
Cardiovascular Epidemiology Training GrantT32HL007055 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Wayne D. Rosamond · 1986 to 2026
$10.0M
JHU-UMD Diabetes Research CenterP30DK079637 · NIDDK · JOHNS HOPKINS UNIVERSITY · PI AHIMA, REXFORD S. · 2013 to 2017
$9.7M
Genetic Architecture of Adiposity in Multiple Large CohortsR01DK089256 · NIDDK · WASHINGTON UNIVERSITY · PI BARANSKI, THOMAS JOHN, LIU, CHING-TI · 2010 to 2016
$4.6M
Molecular Epidemiology of Alcoholism 3 - EDAC FamiliesR01AA013321 · NIAAA · WASHINGTON UNIVERSITY · PI HEATH, ANDREW C. · 2001 to 2005
$4.3M
Genetics of cardiovascular risk factors in large founder population birth controlR01HL087679 · NHLBI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI HIRSCHHORN, JOEL N · 2007 to 2009
$4.0M
Genome-Wide Association for Loci Influencing CHD and Other Heart, Lung and BloodR01HL087641 · NHLBI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI BOERWINKLE, ERIC A. · 2006 to 2008
$3.7M
Genetic Influences on ADHD in a Finnish Birth CohortR01MH063706 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI SMALLEY, SUSAN L · 2001 to 2005
$3.3M
Molecular Epidemiology of Alcoholism 2- Big SibshipsR01AA013320 · NIAAA · WASHINGTON UNIVERSITY · PI HEATH, ANDREW C. · 2003 to 2007
$3.1M
Biotechnology and Biological Sciences Research Council BB/F019394/1British Heart Foundation RG/09/012/28096Chief Scientist Office CZD/16/6/4Department of Health RP-PG-0310-1002Medical Research Council 0927310Medical Research Council G0100266Medical Research Council G0500539Medical Research Council G0600705Medical Research Council G0601966Medical Research Council G0700931Medical Research Council G0701863Medical Research Council G1002319Medical Research Council G9815508Medical Research Council MC_PC_15018Medical Research Council MC_PC_U127561128Medical Research Council MC_U106179471Medical Research Council MC_UP_0801/1Medical Research Council MC_UU_12013/1Medical Research Council MC_UU_12013/4Medical Research Council MC_UU_12015/1Medical Research Council MR/K006584/1Medical Research Council MR/K013351/1Medical Research Council MR/K026992/1NCRR NIH HHS UL1 RR025005NCRR NIH HHS UL1RR025005NHGRI NIH HHS U01 HG004402NHGRI NIH HHS U01HG004402NHLBI NIH HHS 5R01HL087679-02NHLBI NIH HHS HHSN268201100005CNHLBI NIH HHS HHSN268201100005GNHLBI NIH HHS HHSN268201100005INHLBI NIH HHS HHSN268201100006CNHLBI NIH HHS HHSN268201100007CNHLBI NIH HHS HHSN268201100007INHLBI NIH HHS HHSN268201100008CNHLBI NIH HHS HHSN268201100008INHLBI NIH HHS HHSN268201100009CNHLBI NIH HHS HHSN268201100009INHLBI NIH HHS HHSN268201100010CNHLBI NIH HHS HHSN268201100011CNHLBI NIH HHS HHSN268201100011INHLBI NIH HHS HHSN268201100012CNHLBI NIH HHS R01 HL059367NHLBI NIH HHS R01 HL086694NHLBI NIH HHS R01HL086694NHLBI NIH HHS R01 HL087641NHLBI NIH HHS R01HL087641NHLBI NIH HHS R01 HL087679NHLBI NIH HHS R01HL59367NHLBI NIH HHS T32 HL007055NHLBI NIH HHS T32 HL091823NIAAA NIH HHS AA014041NIAAA NIH HHS AA07535NIAAA NIH HHS AA10248NIAAA NIH HHS AA13320NIAAA NIH HHS AA13321NIAAA NIH HHS AA13326NIAAA NIH HHS R01 AA007535NIAAA NIH HHS R01 AA013320NIAAA NIH HHS R01 AA013321NIAAA NIH HHS R01 AA013326NIAAA NIH HHS R01 AA014041NIDA NIH HHS DA12854NIDA NIH HHS R01 DA012854NIDA NIH HHS R56 DA012854NIDDK NIH HHS P30 DK079637NIDDK NIH HHS R01DK8925601NIMH NIH HHS 1RL1MH083268-01NIMH NIH HHS 5R01MH63706:02NIMH NIH HHS R01 MH063706NIMH NIH HHS RL1 MH083268PHS HHS HHSN268200625226CWellcome Trust 084723/Z/08/ZWellcome Trust 0927310Wellcome Trust 097117Wellcome Trust 102215Wellcome Trust WT083431MA
6 · The paper itself

Abstract

The phenotypic effect of some single nucleotide polymorphisms (SNPs) depends on their parental origin. We present a novel approach to detect parent-of-origin effects (POEs) in genome-wide genotype data of unrelated individuals. The method exploits increased phenotypic variance in the heterozygous genotype group relative to the homozygous groups. We applied the method to >56,000 unrelated individuals to search for POEs influencing body mass index (BMI). Six lead SNPs were carried forward for replication in five family-based studies (of ∼4,000 trios). Two SNPs replicated: the paternal rs2471083-C allele (located near the imprinted KCNK9 gene) and the paternal rs3091869-T allele (located near the SLC2A10 gene) increased BMI equally (beta = 0.11 (SD), P<0.0027) compared to the respective maternal alleles. Real-time PCR experiments of lymphoblastoid cell lines from the CEPH families showed that expression of both genes was dependent on parental origin of the SNPs alleles (P<0.01). Our scheme opens new opportunities to exploit GWAS data of unrelated individuals to identify POEs and demonstrates that they play an important role in adult obesity.

Indexed as

AdultBody Mass IndexFemaleGene Expression RegulationGenetic Predisposition to DiseaseGenome-Wide Association StudyGenomic ImprintingGenotypeGlucose Transport Proteins, FacilitativeHumansMaleObesityPolymorphism, Single NucleotidePotassium Channels, Tandem Pore DomainWhite PeopleGlucose Transport Proteins, FacilitativeKCNK9 protein, humanPotassium Channels, Tandem Pore DomainSLC2A10 protein, human

Identifiers

PMID25078964
PMCPMC4117451
OpenAlexW2163968639

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LicenceCC BY
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.