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Evaluating the use of blood pressure polygenic risk scores across race/ethnic background groups

Author

Listed:
  • Nuzulul Kurniansyah

    (Brigham and Women’s Hospital)

  • Matthew O. Goodman

    (Brigham and Women’s Hospital
    Brigham and Women’s Hospital)

  • Alyna T. Khan

    (University of Washington)

  • Jiongming Wang

    (University of Michigan)

  • Elena Feofanova

    (The University of Texas Health Science Center at Houston)

  • Joshua C. Bis

    (University of Washington)

  • Kerri L. Wiggins

    (University of Washington)

  • Jennifer E. Huffman

    (VA Boston Healthcare System)

  • Tanika Kelly

    (Tulane University School of Public Health and Tropical Medicine)

  • Tali Elfassy

    (University of Miami Miller School of Medicine)

  • Xiuqing Guo

    (The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center)

  • Walter Palmas

    (Columbia University Medical Center)

  • Henry J. Lin

    (The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center)

  • Shih-Jen Hwang

    (Lung and Blood Institute
    The Framingham Heart Study)

  • Yan Gao

    (University of Mississippi Medical Center)

  • Kendra Young

    (Colorado School of Public Health)

  • Gregory L. Kinney

    (Colorado School of Public Health)

  • Jennifer A. Smith

    (University of Michigan School of Public Health)

  • Bing Yu

    (The University of Texas Health Science Center at Houston)

  • Simin Liu

    (Brown University
    Brown University)

  • Sylvia Wassertheil-Smoller

    (Albert Einstein College of Medicine
    Albert Einstein College of Medicine)

  • JoAnn E. Manson

    (Brigham and Women’s Hospital
    Harvard T.H. Chan School of Public Health)

  • Xiaofeng Zhu

    (Case Western Reserve University)

  • Yii-Der Ida Chen

    (The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center)

  • I-Te Lee

    (Taichung Veterans General Hospital
    National Yang Ming Chiao Tung University)

  • C. Charles Gu

    (Washington University School of Medicine)

  • Donald M. Lloyd-Jones

    (Northwestern University)

  • Sebastian Zöllner

    (University of Michigan
    University of Michigan)

  • Myriam Fornage

    (The University of Texas Health Science Center at Houston
    University of Texas Health Science Center at Houston)

  • Charles Kooperberg

    (Fred Hutchinson Cancer Research Center)

  • Adolfo Correa

    (University of Mississippi Medical Center)

  • Bruce M. Psaty

    (University of Washington
    University of Washington
    University of Washington
    University of Washington)

  • Donna K. Arnett

    (University of South Carolina)

  • Carmen R. Isasi

    (Albert Einstein College of Medicine)

  • Stephen S. Rich

    (University of Virginia School of Medicine)

  • Robert C. Kaplan

    (Albert Einstein College of Medicine
    Fred Hutchinson Cancer Research Center)

  • Susan Redline

    (Brigham and Women’s Hospital
    Brigham and Women’s Hospital)

  • Braxton D. Mitchell

    (University of Maryland School of Medicine)

  • Nora Franceschini

    (University of North Carolina)

  • Daniel Levy

    (Lung and Blood Institute
    The Framingham Heart Study)

  • Jerome I. Rotter

    (The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center)

  • Alanna C. Morrison

    (The University of Texas Health Science Center at Houston)

  • Tamar Sofer

    (Brigham and Women’s Hospital
    Brigham and Women’s Hospital
    Harvard T.H. Chan School of Public Health
    Beth Israel Deaconess Medical Center)

Abstract

We assess performance and limitations of polygenic risk scores (PRSs) for multiple blood pressure (BP) phenotypes in diverse population groups. We compare “clumping-and-thresholding” (PRSice2) and LD-based (LDPred2) methods to construct PRSs from each of multiple GWAS, as well as multi-PRS approaches that sum PRSs with and without weights, including PRS-CSx. We use datasets from the MGB Biobank, TOPMed study, UK biobank, and from All of Us to train, assess, and validate PRSs in groups defined by self-reported race/ethnic background (Asian, Black, Hispanic/Latino, and White). For both SBP and DBP, the PRS-CSx based PRS, constructed as a weighted sum of PRSs developed from multiple independent GWAS, perform best across all race/ethnic backgrounds. Stratified analysis in All of Us shows that PRSs are better predictive of BP in females compared to males, individuals without obesity, and middle-aged (40-60 years) compared to older and younger individuals.

Suggested Citation

  • Nuzulul Kurniansyah & Matthew O. Goodman & Alyna T. Khan & Jiongming Wang & Elena Feofanova & Joshua C. Bis & Kerri L. Wiggins & Jennifer E. Huffman & Tanika Kelly & Tali Elfassy & Xiuqing Guo & Walte, 2023. "Evaluating the use of blood pressure polygenic risk scores across race/ethnic background groups," Nature Communications, Nature, vol. 14(1), pages 1-14, December.
    • Handle: RePEc:nat:natcom:v:14:y:2023:i:1:d:10.1038_s41467-023-38990-9
    DOI: 10.1038/s41467-023-38990-9
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    References listed on IDEAS

    as
    1. Nuzulul Kurniansyah & Matthew O. Goodman & Tanika N. Kelly & Tali Elfassy & Kerri L. Wiggins & Joshua C. Bis & Xiuqing Guo & Walter Palmas & Kent D. Taylor & Henry J. Lin & Jeffrey Haessler & Yan Gao , 2022. "A multi-ethnic polygenic risk score is associated with hypertension prevalence and progression throughout adulthood," Nature Communications, Nature, vol. 13(1), pages 1-13, December.
    2. Daniel Taliun & Daniel N. Harris & Michael D. Kessler & Jedidiah Carlson & Zachary A. Szpiech & Raul Torres & Sarah A. Gagliano Taliun & André Corvelo & Stephanie M. Gogarten & Hyun Min Kang & Achille, 2021. "Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program," Nature, Nature, vol. 590(7845), pages 290-299, February.
    3. L. Duncan & H. Shen & B. Gelaye & J. Meijsen & K. Ressler & M. Feldman & R. Peterson & B. Domingue, 2019. "Analysis of polygenic risk score usage and performance in diverse human populations," Nature Communications, Nature, vol. 10(1), pages 1-9, December.
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