Evidence map›Paper›PMID 37935687›Full record

ArticleNature communications2023

Unappreciated subcontinental admixture in Europeans and European Americans and implications for genetic epidemiology studies.

Mateus H Gouveia, Amy R Bentley, Thiago P Leal, Eduardo Tarazona-Santos, Carlos D Bustamante, Adebowale A Adeyemo, Charles N Rotimi, Daniel Shriner

Registry-linked trialAbstract 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. It is linked to trial NCT06860295 (The Architectural Immunoregulation in Atherosclerotic Disease), which is not on this map. Cited by 20 papers.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed
–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.

NCT06860295 not yet recruitingnot on this mapstarted 2025, after this paper: background citation

The Architectural Immunoregulation in Atherosclerotic Disease: A Single-Cell RNA Sequencing and Spatial Biology Approach

Typeobservational_patient_registrySponsorHospital Israelita Albert EinsteinRan2025 to 2027Enrolled30ConditionsAtherosclerosis of Coronary ArteryArmsSingle Cell RNA Sequencing
3 · Its place in the literature

Who cites it

20 citing papers in PubMed.

  1. Article
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  13. Review
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  15. Article
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  17. Comment on Genetic Ancestry-Specific Molecular and Survival Differences in Admixed Breast Cancer Patients.Annals of surgery open : perspectives of surgical history, education, and clinical approaches · 2024
    Article
  18. Article
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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

8 authors.

Mateus H GouveiaCenter for Research on Genomics and Global Health, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.ORCID 0000-0001-6711-5265
Amy R BentleyCenter for Research on Genomics and Global Health, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.ORCID 0000-0002-0827-9101
Thiago P LealDepartment of Genomic Medicine, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, 44197, USA.
Eduardo Tarazona-SantosDepartamento de Genética, Ecologia e Evolução, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, 31270-910, Brazil.
Carlos D BustamanteCenter for Computational, Evolutionary and Human Genomics (CEHG), Stanford University, Stanford, CA, 94305, USA.
Adebowale A AdeyemoCenter for Research on Genomics and Global Health, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.ORCID 0000-0002-3105-3231
Charles N RotimiCenter for Research on Genomics and Global Health, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA. rotimic@mail.nih.gov.ORCID 0000-0001-5759-053X
Daniel ShrinerCenter for Research on Genomics and Global Health, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA. shrinerda@mail.nih.gov.ORCID 0000-0003-1928-5520

Funding

Institute for Clinical and Translational Research (UL1)UL1RR025005 · NCRR · JOHNS HOPKINS UNIVERSITY · PI FORD, DANIEL ERNEST · 2007 to 2011
$75.8M
Genetic epidemiology of complex diseasesZIAHG200362 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI ROTIMI, CHARLES · 2009 to 2025
$54.7M
FRAMINGHAM HEART STUDY - YEAR 5 EXAM75N92019D00031 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI RAMACHANDRAN, VASAN · 2019 to 2024
$29.8M
Clinical and Translational Science AwardUL1TR000040 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GINSBERG, HENRY N · 2012 to 2015
$26.2M
The Family Blood Pressure Program (GENOA Network)U01HL054481 · NHLBI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI BOERWINKLE, ERIC A · 2000 to 2007
$6.7M
Genomic Predictors of Arteriosclerosis in HypertensivesR01HL087660 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI KARDIA, SHARON L · 2007 to 2009
$5.1M
Framingham: Inflammation, Genes &Cardiovascular DiseaseR01HL076784 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI BENJAMIN, EMELIA J. · 2004 to 2008
$3.9M
GENETIC DETERMINANTS OF HIGH BP IN THREE RACIAL GROUPSU01HL054457 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI KARDIA, SHARON L · 2000 to 2004
$2.8M
NHLBI FAMILY BLOOD PRESSURE PROGRAM (GENOA)U01HL054464 · NHLBI · MAYO CLINIC COLL OF MEDICINE, ROCHESTER · PI TURNER, STEPHEN T · 2000 to 2004
$2.6M
Vascular Function in the Framingham Third GenerationR01HL070100 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI BENJAMIN, EMELIA J. · 2002 to 2005
$2.4M
Genetic Mechanisms of Arteriosclerosis in Hypertensive SibshipsR01HL119443 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI KARDIA, SHARON L · 2014 to 2017
$2.1M
Cigarette Smoke and Susceptibility to Influenza InfectionR01HL095163 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI JASPERS, ILONA, NOAH, TERRY L · 2009 to 2013
$2.0M
Intramural NIH HHS ZIA HG200362NCATS NIH HHS UL1 TR000040NCRR NIH HHS UL1 RR025005NHGRI NIH HHS U01 HG004402NHLBI NIH HHS 75N92019D00031NHLBI NIH HHS HHSN268201300025CNHLBI NIH HHS HHSN268201300026CNHLBI NIH HHS HHSN268201300027CNHLBI NIH HHS HHSN268201300028CNHLBI NIH HHS HHSN268201300029CNHLBI NIH HHS HHSN268201500001CNHLBI NIH HHS HHSN268201500001INHLBI NIH HHS HHSN268201700001CNHLBI NIH HHS HHSN268201700001INHLBI NIH HHS HHSN268201700002CNHLBI NIH HHS HHSN268201700002INHLBI NIH HHS HHSN268201700003CNHLBI NIH HHS HHSN268201700003INHLBI NIH HHS HHSN268201700004CNHLBI NIH HHS HHSN268201700004INHLBI NIH HHS HHSN268201700005CNHLBI NIH HHS HHSN268201700005INHLBI NIH HHS N01 HC025195NHLBI NIH HHS N01 HC065226NHLBI NIH HHS N01 HC095159NHLBI NIH HHS N01 HC095160NHLBI NIH HHS N01 HC095161NHLBI NIH HHS N01 HC095162NHLBI NIH HHS N01 HC095163NHLBI NIH HHS N01 HC095164NHLBI NIH HHS N01 HC095165NHLBI NIH HHS N01 HC095166NHLBI NIH HHS N01 HC095167NHLBI NIH HHS N01 HC095168NHLBI NIH HHS N01 HC095169NHLBI NIH HHS N02 HL064278NHLBI NIH HHS R01 HL070100NHLBI NIH HHS R01 HL076784NHLBI NIH HHS R01 HL087660NHLBI NIH HHS R01 HL119443NHLBI NIH HHS U01 HL053941NHLBI NIH HHS U01 HL054457NHLBI NIH HHS U01 HL054464NHLBI NIH HHS U01 HL054481NHLBI NIH HHS U10 HL054457NHLBI NIH HHS U10 HL054464NHLBI NIH HHS U10 HL054481
6 · The paper itself

Abstract

European-ancestry populations are recognized as stratified but not as admixed, implying that residual confounding by locus-specific ancestry can affect studies of association, polygenic adaptation, and polygenic risk scores. We integrate individual-level genome-wide data from ~19,000 European-ancestry individuals across 79 European populations and five European American cohorts. We generate a new reference panel that captures ancestral diversity missed by both the 1000 Genomes and Human Genome Diversity Projects. Both Europeans and European Americans are admixed at the subcontinental level, with admixture dates differing among subgroups of European Americans. After adjustment for both genome-wide and locus-specific ancestry, associations between a highly differentiated variant in LCT (rs4988235) and height or LDL-cholesterol were confirmed to be false positives whereas the association between LCT and body mass index was genuine. We provide formal evidence of subcontinental admixture in individuals with European ancestry, which, if not properly accounted for, can produce spurious results in genetic epidemiology studies.

Indexed as

European PeopleGenetics, PopulationHumansMolecular Epidemiology

Identifiers

PMID37935687
PMCPMC10630423

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Registered trials

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.