Evidence map›Paper›PMID 37253714›Full record

ArticleNature communications2023

Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.

Elena V Feofanova, Michael R Brown, Taryn Alkis, Astrid M Manuel, Xihao Li, Usman A Tahir, Zilin Li, Kevin M Mendez, Rachel S Kelly, Qibin Qi and 11 more

Erratum issuedOpen access · goldAbstract read
In one paragraph

Article in Nature communications, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 29 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
29citing papers in PubMed, 1 pooled it
13.2field-weighted citation impact, top 1% 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

29 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.

  1. Pooled it
  2. Expanding the pig metabolomics QTL catalog.Genetics, selection, evolution : GSE · 2026
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  10. Blood biomarkers and breed genetics of aging in pet dogs.bioRxiv : the preprint server for biology · 2026
    Article
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  15. Article
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  18. African ancestry-enriched variants in themedRxiv : the preprint server for health sciences · 2025
    Article
  19. Article
  20. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

21 authors at 14 institutions in 1 country.

Elena V FeofanovaHuman Genetics Center, School of Public Health, The University of Texas Health Science Center, Houston, TX, USA.ORCID http://orcid.org/0000-0003-1428-7199
Michael R BrownHuman Genetics Center, School of Public Health, The University of Texas Health Science Center, Houston, TX, USA.
Taryn AlkisHuman Genetics Center, School of Public Health, The University of Texas Health Science Center, Houston, TX, USA.
Astrid M ManuelCenter for Precision Health, School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, TX, USA.
Xihao LiDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA.ORCID http://orcid.org/0000-0001-8151-0106
Usman A TahirDivision of Cardiovascular Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.
Zilin LiDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA.ORCID http://orcid.org/0000-0003-1521-8945
Kevin M MendezChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Rachel S KellyChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0003-3023-1822
Qibin QiDepartment of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, NY, USA.
Han ChenHuman Genetics Center, School of Public Health, The University of Texas Health Science Center, Houston, TX, USA.
Martin G LarsonDepartment of Biostatistics, Boston University School of Public Health, Boston, MA, USA.
Rozenn N LemaitreCardiovascular Health Research Unit, Departments of Medicine, Epidemiology, and Health Systems and Population Health, University of Washington, Seattle, WA, USA.ORCID http://orcid.org/0000-0002-7038-1844
Alanna C MorrisonHuman Genetics Center, School of Public Health, The University of Texas Health Science Center, Houston, TX, USA.ORCID http://orcid.org/0000-0001-6381-4296
Charles GrieserMetabolon Inc., Morrisville, NC, USA.
Kari E WongMetabolon Inc., Morrisville, NC, USA.
Robert E GersztenDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.ORCID http://orcid.org/0000-0002-6767-7687
Zhongming ZhaoHuman Genetics Center, School of Public Health, The University of Texas Health Science Center, Houston, TX, USA.ORCID http://orcid.org/0000-0002-3477-0914
Jessica Lasky-SuChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
NHLBI Trans-Omics for Precision Medicine (TOPMed)
Bing YuHuman Genetics Center, School of Public Health, The University of Texas Health Science Center, Houston, TX, USA. Bing.Yu@uth.tmc.edu.ORCID http://orcid.org/0000-0003-4818-1077
The University of Texas Health Science Center at Houston · USUniversity of Washington · USAlbert Einstein College of Medicine · USBrigham and Women's Hospital · USBroad Institute · USHarvard University · USMetabolon (United States) · USUCLA Medical Center · USUniversity of Massachusetts Chan Medical School · USUniversity of North Carolina at Chapel Hill · USBeth Israel Deaconess Medical Center · USBoston University · USNational Heart Lung and Blood Institute · USThe University of Texas Health Science Center · US

Funding

Large Scale Sequencing and Analysis of GenomesU54HG003067 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY, LANDER, ERIC S · 2004 to 2015
$568.6M
The Human Genome Sequencing CenterU54HG003273 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2004 to 2015
$341.3M
UNC-CH CENTER FOR ENVIRONMENTAL HEALTH &SUSCEPTIBILITYP30ES010126 · NIEHS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Melissa A. Troester · 2001 to 2026
$36.3M
TRAINING PROGRAM IN COMPUTATIONAL BIOLOGY AND MEDICINET15LM007093 · NLM · RICE UNIVERSITY · PI Lydia E. Kavraki · 1992 to 2026
$20.8M
IDENTIFICATION OF COMMON GENETIC VARIANTS FOR ATRIAL FIBRILLATION AND PR INTERVALR01HL092577 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI BENJAMIN, EMELIA J., ELLINOR, PATRICK THOMAS · 2009 to 2025
$20.6M
Statistical Methods for Analysis of Massive Genetic and Genomic Data in Cancer ResearchR35CA197449 · NCI · HARVARD UNIVERSITY D/B/A HARVARD SCHOOL OF PUBLIC HEALTH · PI XIHONG LIN · 2015 to 2026
$10.9M
Studies of Rare Genetic Variation in the Isolated Population of SardiniaR01HL117626 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2013 to 2016
$10.5M
CHARGE Consortium: Omics Discovery for CVD and Aging PhenotypesR01HL105756 · NHLBI · UNIVERSITY OF WASHINGTON · PI Bruce M Psaty, NICHOLAS L SMITH · 2011 to 2026
$9.5M
Rare variants and NHLBI traits in deeply phenotyped cohortsR01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2014 to 2016
$8.9M
New York Regional Center for Diabetes Translation Research - Translational Intervention Methodology CoreP30DK111022 · NIDDK · ALBERT EINSTEIN COLLEGE OF MEDICINE, INC · PI JEFFREY GONZALEZ · 2016 to 2026
$7.8M
Rare variants and NHLBI traits in deeply phenotyped cohortsU01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2017 to 2018
$5.6M
Epigenetics of Successful AgingR01HL131136 · NHLBI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI BOERWINKLE, ERIC A. · 2017 to 2020
$4.0M
NCI NIH HHS R35 CA197449NHGRI NIH HHS U54 HG003067NHGRI NIH HHS U54 HG003273NHLBI NIH HHS HHSN268201000001INHLBI NIH HHS HHSN268201100037CNHLBI NIH HHS HHSN268201500014CNHLBI NIH HHS HHSN268201500015CNHLBI NIH HHS HHSN268201600031CNHLBI NIH HHS HHSN268201600038CNHLBI NIH HHS HHSN268201800001CNHLBI NIH HHS K01 HL146980NHLBI NIH HHS K08 HL161445NHLBI NIH HHS R01 HL092577NHLBI NIH HHS R01 HL105756NHLBI NIH HHS R01 HL117626NHLBI NIH HHS R01 HL120393NHLBI NIH HHS R01 HL131136NHLBI NIH HHS R01 HL136574NHLBI NIH HHS R01 HL141824NHLBI NIH HHS R01 HL142003NHLBI NIH HHS R01 HL163560NHLBI NIH HHS R01 HL168683NHLBI NIH HHS U01 HL120393NIDDK NIH HHS P30 DK111022NIEHS NIH HHS HHSN268201600032CNIEHS NIH HHS HHSN268201600033CNIEHS NIH HHS P30 ES010126NLM NIH HHS R01 LM012806NLM NIH HHS T15 LM007093
6 · The paper itself

Abstract

Circulating metabolite levels may reflect the state of the human organism in health and disease, however, the genetic architecture of metabolites is not fully understood. We have performed a whole-genome sequencing association analysis of both common and rare variants in up to 11,840 multi-ethnic participants from five studies with up to 1666 circulating metabolites. We have discovered 1985 novel variant-metabolite associations, and validated 761 locus-metabolite associations reported previously. Seventy-nine novel variant-metabolite associations have been replicated, including three genetic loci located on the X chromosome that have demonstrated its involvement in metabolic regulation. Gene-based analysis have provided further support for seven metabolite-replicated loci pairs and their biologically plausible genes. Among those novel replicated variant-metabolite pairs, follow-up analyses have revealed that 26 metabolites have colocalized with 21 tissues, seven metabolite-disease outcome associations have been putatively causal, and 7 metabolites might be regulated by plasma protein levels. Our results have depicted the genetic contribution to circulating metabolite levels, providing additional insights into understanding human disease.

Indexed as

EthnicityQuantitative Trait LociGenome-Wide Association StudyHumansMetabolomePolymorphism, Single Nucleotide

Identifiers

PMID37253714
PMCPMC10229598
OpenAlexW4378781655

What OpenQuestion holds

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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.