Evidence map›Paper›PMID 37231098›Full record

ArticleNature genetics2023

Gene expression in African Americans, Puerto Ricans and Mexican Americans reveals ancestry-specific patterns of genetic architecture.

Linda Kachuri, Angel C Y Mak, Donglei Hu, Celeste Eng, Scott Huntsman, Jennifer R Elhawary, Namrata Gupta, Stacey Gabriel, Shujie Xiao, Kevin L Keys and 9 more

Open access · hybridAbstract read
In one paragraph

Article in Nature genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
68citing papers in PubMed, 3 pooled it
30.7field-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

68 citing papers in PubMed, 3 syntheses or guidelines pooled it, 96 citations in OpenAlex.

  1. Pooled it
  2. Multiancestry Transcriptome-Wide Association Study Identifies Candidate Genes Associated with Hepatoblastoma.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2025
    Pooled it
  3. Pooled it
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  9. Genetic evidence for POR-mediated ferroptosis in lung cancer prevention: a causal role of granulocyte modulation.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026
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  17. Sequencing and health data resource of children of African ancestry.Genetics in medicine : official journal of the American College of Medical Genetics · 2026
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8 more citing papers are in PubMed but not listed here.

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 at 8 institutions in 2 countries.

Linda Kachuri *Department of Epidemiology and Biostatistics, University of California, San Francisco, San Francisco, CA, USA.ORCID 0000-0002-3226-4727
Angel C Y Mak *Department of Medicine, University of California, San Francisco, San Francisco, CA, USA.ORCID 0000-0002-5372-4198
Donglei HuDepartment of Medicine, University of California, San Francisco, San Francisco, CA, USA.ORCID 0000-0002-0351-001X
Celeste EngDepartment of Medicine, University of California, San Francisco, San Francisco, CA, USA.
Scott HuntsmanDepartment of Medicine, University of California, San Francisco, San Francisco, CA, USA.
Jennifer R ElhawaryDepartment of Medicine, University of California, San Francisco, San Francisco, CA, USA.
Namrata GuptaBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Stacey GabrielBroad Institute of MIT and Harvard, Cambridge, MA, USA.
Shujie XiaoCenter for Individualized and Genomic Medicine Research, Henry Ford Health System, Detroit, MI, USA.
Kevin L KeysDepartment of Medicine, University of California, San Francisco, San Francisco, CA, USA.ORCID 0000-0003-4886-6666
Akinyemi Oni-OrisanDepartment of Clinical Pharmacy, University of California, San Francisco, San Francisco, CA, USA.ORCID 0000-0002-5897-5543
José R Rodríguez-SantanaCentro de Neumología Pediátrica, San Juan, Puerto Rico.
Michael A LeNoirBay Area Pediatrics, Oakland, CA, USA.
Luisa N BorrellDepartment of Epidemiology and Biostatistics, Graduate School of Public Health and Health Policy, City University of New York, New York, NY, USA.ORCID 0000-0002-0560-4853
Noah A ZaitlenDepartment of Neurology, University of California, Los Angeles, Los Angeles, CA, USA.
L Keoki WilliamsCenter for Individualized and Genomic Medicine Research, Henry Ford Health System, Detroit, MI, USA.
Christopher R GignouxColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA. Chris.Gignoux@cuanschutz.edu.ORCID 0000-0001-9728-6567
Esteban González BurchardDepartment of Medicine, University of California, San Francisco, San Francisco, CA, USA. Esteban.Burchard@ucsf.edu.ORCID 0000-0001-7475-2035
Elad ZivDepartment of Medicine, University of California, San Francisco, San Francisco, CA, USA. Elad.Ziv@ucsf.edu.ORCID 0000-0002-2324-2884
University of California, San Francisco · USBroad Institute · USHenry Ford Health System · USCentro de Neumologia Pediatrica · PRCity University of New York · USKIPP Bay Area Schools · USUniversity of California, Los Angeles · USUniversity of Colorado Anschutz Medical Campus · US

Funding

New York Center for Collaborative Research In Common Disease Genomics: Genome Aggregation and Joint Variant Calling for CCDG Freeze2UM1HG008901 · NHGRI · NEW YORK GENOME CENTER · PI MANIATIS, THOMAS P, WIGLER, MICHAEL H · 2016 to 2020
$56.6M
Polygenic Risk Scores for Diverse Populations - Bridging Research and Clinical CareR01HL151152 · NHLBI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI Christy Leigh Avery, Jennifer Below · 2020 to 2026
$12.3M
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
Natural History of Viral Induced Airway Dysfunction and Asthma in Minority ChildrenU01HL138626 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI RODRIGUEZ-SANTANA, JOSE, SEIBOLD, MAX A · 2018 to 2022
$10.0M
The Airway Functional Genomics of Bronchodilator Drug Response in Minority Children with AsthmaR01HL117004 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI AHITUV, NADAV, SEIBOLD, MAX A · 2013 to 2022
$9.3M
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
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
Social Interventions to address disparities In young adult tobacco useP60MD006902 · NIMHD · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI SCHILLINGER, DEAN · 2012 to 2016
$6.4M
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
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
Gene-environments and Admixture in Latino Asthmatics (GALA 2)R01ES015794 · NIEHS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI BURCHARD, ESTEBAN GONZALEZ · 2008 to 2012
$5.4M
Optimizing imputation for diverse populations in a distributed frameworkU01HG009080 · NHGRI · STANFORD UNIVERSITY · PI KENNY, EIMEAR ELIZABETH · 2016 to 2020
$5.2M
NCI NIH HHS K24 CA169004NCI NIH HHS K99 CA246076NCI NIH HHS R00 CA246076NCI NIH HHS R01 CA227466NHGRI NIH HHS R01 HG006399NHGRI NIH HHS R01 HG010297NHGRI NIH HHS R01 HG011345NHGRI NIH HHS U01 HG009080NHGRI NIH HHS U24 HG008956NHGRI NIH HHS UM1 HG008901NHLBI NIH HHS HHSN268201800001CNHLBI NIH HHS K01 HL143109NHLBI NIH HHS R01 HL117004NHLBI NIH HHS R01 HL117626NHLBI NIH HHS R01 HL120393NHLBI NIH HHS R01 HL135156NHLBI NIH HHS R01 HL151152NHLBI NIH HHS U01 HL120393NHLBI NIH HHS U01 HL138626NIEHS NIH HHS HHSN268201600032CNIEHS NIH HHS R01 ES015794NIMHD NIH HHS P60 MD006902NIMHD NIH HHS R56 MD013312
6 · The paper itself

Abstract

We explored ancestry-related differences in the genetic architecture of whole-blood gene expression using whole-genome and RNA sequencing data from 2,733 African Americans, Puerto Ricans and Mexican Americans. We found that heritability of gene expression significantly increased with greater proportions of African genetic ancestry and decreased with higher proportions of Indigenous American ancestry, reflecting the relationship between heterozygosity and genetic variance. Among heritable protein-coding genes, the prevalence of ancestry-specific expression quantitative trait loci (anc-eQTLs) was 30% in African ancestry and 8% for Indigenous American ancestry segments. Most anc-eQTLs (89%) were driven by population differences in allele frequency. Transcriptome-wide association analyses of multi-ancestry summary statistics for 28 traits identified 79% more gene-trait associations using transcriptome prediction models trained in our admixed population than models trained using data from the Genotype-Tissue Expression project. Our study highlights the importance of measuring gene expression across large and ancestrally diverse populations for enabling new discoveries and reducing disparities.

Indexed as

Black or African AmericanHispanic or LatinoMexican AmericansGenome-Wide Association StudyHumansPhenotypePolymorphism, Single NucleotideTranscriptome

Identifiers

PMID37231098
PMCPMC10260401
OpenAlexW4378212020

What Socratic holds

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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 Socratic graph.