Evidence map›Paper›PMID 34376796›Full record

ArticleJournal of human genetics2022

Analyses of biomarker traits in diverse UK biobank participants identify associations missed by European-centric analysis strategies.

Quan Sun, Misa Graff, Bryce Rowland, Jia Wen, Le Huang, Tyne W Miller-Fleming, Jeffrey Haessler, Michael H Preuss, Jin-Fang Chai, Moa P Lee and 9 more

Abstract read
In one paragraph

Article in Journal of human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
35citing papers in PubMed, 2 pooled it
–field-weighted citation impact
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

35 citing papers in PubMed, 2 syntheses or guidelines pooled it.

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  12. Open biology · 2025
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  16. Assessing polyomic risk to predict Alzheimer's disease using a machine learning model.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024
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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

19 authors.

Quan SunDepartment of Biostatistics, University of North Carolina, Chapel Hill, NC, USA.ORCID http://orcid.org/0000-0001-8324-2803
Misa GraffDepartment of Epidemiology, University of North Carolina, Chapel Hill, NC, USA.ORCID http://orcid.org/0000-0001-6380-1735
Bryce RowlandDepartment of Biostatistics, University of North Carolina, Chapel Hill, NC, USA.
Jia WenDepartment of Genetics, University of North Carolina, Chapel Hill, NC, USA.
Le HuangDepartment of Genetics, University of North Carolina, Chapel Hill, NC, USA.
Tyne W Miller-FlemingDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Jeffrey HaesslerDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Michael H PreussThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0001-5266-8465
Jin-Fang ChaiSaw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore.
Moa P LeeDepartment of Epidemiology, University of North Carolina, Chapel Hill, NC, USA.
Christy L AveryDepartment of Epidemiology, University of North Carolina, Chapel Hill, NC, USA.
Ching-Yu ChengSingapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.
Nora FranceschiniDepartment of Epidemiology, University of North Carolina, Chapel Hill, NC, USA.
Xueling SimSaw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore.ORCID http://orcid.org/0000-0002-1233-7642
Nancy J CoxDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Charles KooperbergDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Kari E NorthDepartment of Epidemiology, University of North Carolina, Chapel Hill, NC, USA.
Yun Li *Department of Biostatistics, University of North Carolina, Chapel Hill, NC, USA.
Laura M Raffield *Department of Genetics, University of North Carolina, Chapel Hill, NC, USA. laura_raffield@unc.edu.ORCID http://orcid.org/0000-0002-7892-193X

Funding

Vanderbilt Institute for Clinical and Translational Research (VICTR) -Identifying correlates of functional immunity in SARS-CoV-2 convalescent plasmaUL1TR002243 · NCATS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Paul A. Harris, Wesley H Self · 2017 to 2026
$130.7M
VANDERBILT UNIVERSITY CTSA FOR PEDIATRIC RESEARCHUL1RR024975 · NCRR · VANDERBILT UNIVERSITY · PI BERNARD, GORDON RAPHAEL · 2007 to 2011
$45.7M
The Vanderbilt Institute for Clinical and Translational Research (VICTR)UL1TR000445 · NCATS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BERNARD, GORDON RAPHAEL · 2012 to 2016
$41.4M
Pharmacogenomics of Arrhythmia TherapyU19HL065962 · NHLBI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI RODEN, DAN M · 2010 to 2014
$17.4M
Understanding and preventing HLA-associated drug reactionsP50GM115305 · NIGMS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI DENNY, JOSHUA C. · 2015 to 2019
$13.0M
North Carolina Translational and Clinical Science Institute (NC TraCS) KL2KL2TR002490 · NCATS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI WEINBERGER, MORRIS · 2018 to 2022
$11.0M
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
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
The Genetic Epemiology of Multiple SclerosisR01NS032830 · NINDS · VANDERBILT UNIVERSITY · PI HAINES, JONATHAN L · 1995 to 2010
$8.9M
Epidemiologic Architecture for Genes Linked to Environment (EAGLE)U01HG004798 · NHGRI · VANDERBILT UNIVERSITY · PI CRAWFORD, DANA C · 2008 to 2013
$8.8M
PAGE III: Population Architecture using Genomics and EpidemiologyR01HG010297 · NHGRI · RUTGERS, THE STATE UNIV OF N.J. · PI GIGNOUX, CHRISTOPHER R, MATISE, TARA C. · 2019 to 2022
$6.5M
VESPA: Vanderbilt Electronic Systems for Pharmacogenomic AssessmentRC2GM092618 · NIGMS · VANDERBILT UNIVERSITY · PI DENNY, JOSHUA C., RODEN, DAN M · 2009 to 2010
$6.4M
Medical Research Council MC_PC_17228Medical Research Council MC_QA137853NCATS NIH HHS KL2 TR002490NCATS NIH HHS UL1 TR000445NCATS NIH HHS UL1 TR002243NCRR NIH HHS S10 RR025141NCRR NIH HHS UL1 RR024975NHGRI NIH HHS R01 HG010297NHGRI NIH HHS U01 HG004798NHGRI NIH HHS U01 HG006378NHGRI NIH HHS U01 HG007376NHLBI NIH HHS F32 HL149256NHLBI NIH HHS HHSN268201100001INHLBI NIH HHS HHSN268201100002INHLBI NIH HHS HHSN268201100003INHLBI NIH HHS HHSN268201100004INHLBI NIH HHS HHSN268201100046CNHLBI NIH HHS HHSN268201800001CNHLBI NIH HHS R01 HL117626NHLBI NIH HHS R01 HL120393NHLBI NIH HHS R21 HL140385NHLBI NIH HHS T32 HL129982NHLBI NIH HHS U01 HL120393NHLBI NIH HHS U19 HL065962NIA NIH HHS HHSN271201100004CNICHD NIH HHS R01 HD074711NIDDK NIH HHS R01 DK117445NIGMS NIH HHS P50 GM115305NIGMS NIH HHS RC2 GM092618NIH HHS S10 OD017985NIMHD NIH HHS R01 MD012765NINDS NIH HHS R01 NS032830U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (NHLBI) HL140385U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (NHLBI) KL2 TR00249U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (NHLBI) R01HG010297U.S. Department of Health & Human Services | NIH | National Institute on Minority Health and Health Disparities (NIMHD) MD012765WHI NIH HHS HHSN268201100001CWHI NIH HHS HHSN268201100002CWHI NIH HHS HHSN268201100003CWHI NIH HHS HHSN268201100004C
6 · The paper itself

Abstract

Despite the dramatic underrepresentation of non-European populations in human genetics studies, researchers continue to exclude participants of non-European ancestry, as well as variants rare in European populations, even when these data are available. This practice perpetuates existing research disparities and can lead to important and large effect size associations being missed. Here, we conducted genome-wide association studies (GWAS) of 31 serum and urine biomarker quantitative traits in African (n = 9354), East Asian (n = 2559), and South Asian (n = 9823) ancestry UK Biobank (UKBB) participants. We adjusted for all known GWAS catalog variants for each trait, as well as novel signals identified in a recent European ancestry-focused analysis of UKBB participants. We identify 7 novel signals in African ancestry and 2 novel signals in South Asian ancestry participants (p < 1.61E-10). Many of these signals are highly plausible, including a cis pQTL for the gene encoding gamma-glutamyl transferase and PIEZO1 and G6PD variants with impacts on HbA1c through likely erythrocytic mechanisms. This work illustrates the importance of using the genetic data we already have in diverse populations, with novel discoveries possible in even modest sample sizes.

Indexed as

Polymorphism, Single NucleotideAllelesAsian PeopleBiological Specimen BanksBiomarkersBlack PeopleFemaleGene FrequencyGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansMalePhenotypeQuantitative Trait LociUnited KingdomBiomarkers

Identifiers

PMID34376796
PMCPMC8792153

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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.