Evidence map›Paper›PMID 25383972›Full record

ArticleNature genetics2014

Leveraging population admixture to characterize the heritability of complex traits.

Noah Zaitlen, Bogdan Pasaniuc, Sriram Sankararaman, Gaurav Bhatia, Jianqi Zhang, Alexander Gusev, Taylor Young, Arti Tandon, Samuela Pollack, Bjarni J Vilhjálmsson and 31 more

Open access · greenAbstract read
In one paragraph

Article in Nature genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
48citing 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

48 citing papers in PubMed, 2 syntheses or guidelines pooled it, 79 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Trial
  4. Article
  5. Article
  6. Interpreting SNP heritability in admixed populations.bioRxiv : the preprint server for biology · 2025
    Article
  7. Article
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  13. Strategies for the Genomic Analysis of Admixed Populations.Annual review of biomedical data science · 2023
    Review
  14. Article
  15. Article
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  17. Article
  18. Human genetic admixture through the lens of population genomics.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2022
    Review
  19. Article
  20. Article
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

41 authors at 20 institutions in 2 countries.

Noah ZaitlenDepartment of Medicine, University of California, San Francisco, San Francisco, California, USA.
Bogdan PasaniucDepartment of Pathology and Laboratory Medicine, University of California, Los Angeles, Los Angeles, California, USA.
Sriram Sankararaman1] Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [2] Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.
Gaurav Bhatia1] Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [2] Department of Biostatistics, Harvard School of Public Health, Boston, Massachusetts, USA. [3] Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA.
Jianqi ZhangDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
Alexander Gusev1] Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [2] Department of Biostatistics, Harvard School of Public Health, Boston, Massachusetts, USA. [3] Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA.
Taylor YoungBroad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.
Arti Tandon1] Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [2] Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.
Samuela Pollack1] Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [2] Department of Biostatistics, Harvard School of Public Health, Boston, Massachusetts, USA. [3] Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA.
Bjarni J Vilhjálmsson1] Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [2] Department of Biostatistics, Harvard School of Public Health, Boston, Massachusetts, USA. [3] Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA.
Themistocles L AssimesDepartment of Medicine, Stanford University School of Medicine, Stanford, California, USA.
Sonja I BerndtDivision of Cancer Epidemiology and Genetics, National Cancer Institute, US National Institutes of Health, Bethesda, Maryland, USA.
William J Blot1] Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA. [2] Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA. [3] International Epidemiology Institute, Rockville, Maryland, USA.
Stephen ChanockDivision of Cancer Epidemiology and Genetics, National Cancer Institute, US National Institutes of Health, Bethesda, Maryland, USA.
Nora FranceschiniDepartment of Epidemiology, University of North Carolina, Chapel Hill, North Carolina, USA.
Phyllis G GoodmanSWOG Statistical Center, Seattle, Washington, USA.
Jing HeDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
Anselm J M Hennis1] Department of Preventive Medicine, Stony Brook University, Stony Brook, New York, USA. [2] Chronic Disease Research Centre, University of the West Indies, Bridgetown, Barbados. [3] Faculty of Medical Sciences, University of the West Indies, Bridgetown, Barbados. [4] Ministry of Health, Bridgetown, Barbados.
Ann Hsing1] Cancer Prevention Institute of California, Fremont, California, USA. [2] Division of Epidemiology, Stanford University School of Medicine, Stanford, California, USA.
Sue A InglesDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
William IsaacsJames Buchanan Brady Urological Institute, Johns Hopkins Hospital and Medical Institutions, Baltimore, Maryland, USA.
Rick A KittlesDepartment of Medicine, University of Illinois at Chicago, Chicago, Illinois, USA.ORCID 0000000250044437
Eric A KleinGlickman Urologic and Kidney Institute, Cleveland Clinic, Cleveland, Ohio, USA.
Leslie A LangeDepartment of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA.
Barbara NemesureDepartment of Preventive Medicine, Stony Brook University, Stony Brook, New York, USA.
Nick PattersonBroad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.
David Reich1] Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [2] Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA. [3] Howard Hughes Medical Institute, Harvard Medical School, Boston, Massachusetts, USA.
Benjamin A RybickiDepartment of Public Health Sciences, Henry Ford Hospital, Detroit, Michigan, USA.
Janet L StanfordDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.
Victoria L StevensEpidemiology Research Program, American Cancer Society, Atlanta, Georgia, USA.
Sara S StromDepartment of Epidemiology, Division of Cancer Prevention and Population Sciences, University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
Eric A WhitselDepartment of Epidemiology, University of North Carolina, Chapel Hill, North Carolina, USA.
John S WitteInstitute for Human Genetics, University of California, San Francisco, San Francisco, California, USA.
Jianfeng XuCenter for Cancer Genomics, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA.
Christopher Haiman1] Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA. [2] Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, California, USA.
James G WilsonDepartment of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, Mississippi, USA.
Charles KooperbergDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.
Daniel StramDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.ORCID 0000000170999022
Alex P ReinerDepartment of Epidemiology, University of Washington School of Public Health, Seattle, Washington, USA.
Hua TangDepartment of Genetics, Stanford University School of Medicine, Stanford, California, USA.
Alkes L Price1] Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [2] Department of Biostatistics, Harvard School of Public Health, Boston, Massachusetts, USA. [3] Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA.
Broad Institute · USUniversity of Southern California · USUniversity of North Carolina at Chapel Hill · USFred Hutch Cancer Center · USNational Institutes of Health · USStanford University · USUniversity of California, San Francisco · USAmerican Cancer Society · USCancer Prevention Institute of California · USCancer Research And Biostatistics · USCleveland Clinic · USHenry Ford Hospital · USJackson Memorial Hospital · USJohns Hopkins University · USMinistry of Health · BBStony Brook University · USThe University of Texas MD Anderson Cancer Center · USUniversity of California, Los Angeles · USUniversity of Illinois Chicago · USUniversity of Washington · US

Funding

Translational Bioimaging Core Shared ResourceP30CA015704 · NCI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI Marian Esvelt · 1985 to 2026
$296.4M
SWOG Foreign AccrualsU10CA037429 · NCI · UNIVERSITY OF TEXAS HLTH SCIENCE CENTER · PI BLANKE, CHARLES D., MEYSKENS, FRANK L. · 1985 to 2014
$205.2M
SWOG NCORP Research BaseUG1CA189974 · NCI · THE HOPE FOUNDATION · PI CHARLES D. BLANKE, DAWN HERSHMAN · 2014 to 2026
$80.6M
Southern Community Cohort StudyR01CA092447 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BLOT, WILLIAM J., ZHENG, WEI · 2001 to 2015
$74.0M
GRADUATE TRAINING IN BIOSTATISTICST32ES007142 · NIEHS · HARVARD UNIVERSITY (SCH OF PUBLIC HLTH) · PI Brent Andrew Coull · 1985 to 2026
$11.9M
GENE-ENVIRONMENT INTERACTION IN PROSTATE CANCERR01ES011126 · NIEHS · HENRY FORD HEALTH SYSTEM · PI RYBICKI, BENJAMIN A. · 2000 to 2017
$8.0M
Methods for Genome-wide Association Studies in Admixed PopulationsR01HG006399 · NHGRI · HARVARD UNIVERSITY D/B/A HARVARD SCHOOL OF PUBLIC HEALTH · PI PRICE, ALKES L · 2011 to 2024
$6.3M
PCPT and SELECT cohorts: Core Infrastructure Support for Cancer Research UM1CA182883 · NCI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI TANGEN, CATHERINE M., THOMPSON, IAN M. · 2013 to 2017
$5.2M
Population mixture in evolutionary and medical geneticsR01GM100233 · NIGMS · HARVARD MEDICAL SCHOOL · PI PATTERSON, NICK J, REICH, DAVID E · 2012 to 2019
$2.7M
Genetic Architecture of Complex Traits in Admixed PopulationsR01GM073059 · NIGMS · STANFORD UNIVERSITY · PI TANG, HUA · 2005 to 2016
$2.4M
Richer Models of Asthma Risk: Bridging the Environment-Genetics DivideK25HL121295 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI ZAITLEN, NOAH A · 2014 to 2018
$784k
Liability threshold modeling of genes and environment in case-control studiesR21ES020754 · NIEHS · HARVARD SCHOOL OF PUBLIC HEALTH · PI PRICE, ALKES L · 2012 to 2014
$496k
NCI NIH HHS P30 CA015704NCI NIH HHS R01 CA092447NCI NIH HHS U10 CA037429NCI NIH HHS UG1 CA189974NCI NIH HHS UM1 CA182883NHGRI NIH HHS R01 HG006399NHLBI NIH HHS 1K25HL121295-01A1NHLBI NIH HHS HHSN268201100046CNHLBI NIH HHS K25 HL121295NHLBI NIH HHS R21 HL123677NIA NIH HHS HHSN271201100004CNIEHS NIH HHS R01 ES011126NIEHS NIH HHS R21 ES020754NIEHS NIH HHS T32 ES007142NIGMS NIH HHS F32 GM106584NIGMS NIH HHS R01 GM073059NIGMS NIH HHS R01 GM100233WHI NIH HHS HHSN268201100001CWHI NIH HHS HHSN268201100002CWHI NIH HHS HHSN268201100003CWHI NIH HHS HHSN268201100004C
6 · The paper itself

Abstract

Despite recent progress on estimating the heritability explained by genotyped SNPs (h(2)g), a large gap between h(2)g and estimates of total narrow-sense heritability (h(2)) remains. Explanations for this gap include rare variants or upward bias in family-based estimates of h(2) due to shared environment or epistasis. We estimate h(2) from unrelated individuals in admixed populations by first estimating the heritability explained by local ancestry (h(2)γ). We show that h(2)γ = 2FSTCθ(1 - θ)h(2), where FSTC measures frequency differences between populations at causal loci and θ is the genome-wide ancestry proportion. Our approach is not susceptible to biases caused by epistasis or shared environment. We applied this approach to the analysis of 13 phenotypes in 21,497 African-American individuals from 3 cohorts. For height and body mass index (BMI), we obtained h(2) estimates of 0.55 ± 0.09 and 0.23 ± 0.06, respectively, which are larger than estimates of h(2)g in these and other data but smaller than family-based estimates of h(2).

Indexed as

Genome-Wide Association StudyMultifactorial InheritanceQuantitative Trait, HeritableAgedBlack or African AmericanBlack PeopleBody Mass IndexCardiovascular DiseasesCase-Control StudiesChromosome MappingCohort StudiesComputer SimulationEpistasis, GeneticFemaleGenetics, PopulationGenotype

Identifiers

PMID25383972
PMCPMC4244251
OpenAlexW2112140283

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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.