IDEAS home Printed from https://ideas.repec.org/a/nat/natcom/v13y2022i1d10.1038_s41467-022-28294-9.html
   My bibliography  Save this article

Assortative mating biases marker-based heritability estimators

Author

Listed:
  • Richard Border

    (University of California
    University of Colorado Boulder
    Harvard T.H. Chan School of Public Health)

  • Sean O’Rourke

    (University of Colorado Boulder)

  • Teresa de Candia

    (University of Colorado Boulder)

  • Michael E. Goddard

    (University of Melbourne
    Biosciences Research Division)

  • Peter M. Visscher

    (University of Queensland)

  • Loic Yengo

    (University of Queensland)

  • Matt Jones

    (University of Colorado Boulder)

  • Matthew C. Keller

    (University of Colorado Boulder
    University of Colorado Boulder)

Abstract

Many traits are subject to assortative mating, with recent molecular genetic findings confirming longstanding theoretical predictions that assortative mating induces long range dependence across causal variants. However, all marker-based heritability estimators implicitly assume mating is random. We provide mathematical and simulation-based evidence demonstrating that both method-of-moments and likelihood-based estimators are biased in the presence of assortative mating and derive corrected heritability estimators for traits subject to assortment. Finally, we demonstrate that the empirical patterns of estimates across methods and sample sizes for real traits subject to assortative mating are congruent with expected assortative mating-induced biases. For example, marker-based heritability estimates for height are 14% – 23% higher than corrected estimates using UK Biobank data.

Suggested Citation

  • Richard Border & Sean O’Rourke & Teresa de Candia & Michael E. Goddard & Peter M. Visscher & Loic Yengo & Matt Jones & Matthew C. Keller, 2022. "Assortative mating biases marker-based heritability estimators," Nature Communications, Nature, vol. 13(1), pages 1-10, December.
  • Handle: RePEc:nat:natcom:v:13:y:2022:i:1:d:10.1038_s41467-022-28294-9
    DOI: 10.1038/s41467-022-28294-9
    as

    Download full text from publisher

    File URL: https://www.nature.com/articles/s41467-022-28294-9
    File Function: Abstract
    Download Restriction: no

    File URL: https://libkey.io/10.1038/s41467-022-28294-9?utm_source=ideas
    LibKey link: if access is restricted and if your library uses this service, LibKey will redirect you to where you can use your library subscription to access this item
    ---><---

    References listed on IDEAS

    as
    1. Clare Bycroft & Colin Freeman & Desislava Petkova & Gavin Band & Lloyd T. Elliott & Kevin Sharp & Allan Motyer & Damjan Vukcevic & Olivier Delaneau & Jared O’Connell & Adrian Cortes & Samantha Welsh &, 2018. "The UK Biobank resource with deep phenotyping and genomic data," Nature, Nature, vol. 562(7726), pages 203-209, October.
    Full references (including those not matched with items on IDEAS)

    Citations

    Citations are extracted by the CitEc Project, subscribe to its RSS feed for this item.
    as


    Cited by:

    1. Tabea Schoeler & Doug Speed & Eleonora Porcu & Nicola Pirastu & Jean-Baptiste Pingault & Zoltán Kutalik, 2023. "Participation bias in the UK Biobank distorts genetic associations and downstream analyses," Nature Human Behaviour, Nature, vol. 7(7), pages 1216-1227, July.
    2. Hans Fredrik Sunde & Nikolai Haahjem Eftedal & Rosa Cheesman & Elizabeth C. Corfield & Thomas H. Kleppesto & Anne Caroline Seierstad & Eivind Ystrom & Espen Moen Eilertsen & Fartein Ask Torvik, 2024. "Genetic similarity between relatives provides evidence on the presence and history of assortative mating," Nature Communications, Nature, vol. 15(1), pages 1-11, December.
    3. Hans Kippersluis & Pietro Biroli & Rita Dias Pereira & Titus J. Galama & Stephanie Hinke & S. Fleur W. Meddens & Dilnoza Muslimova & Eric A. W. Slob & Ronald Vlaming & Cornelius A. Rietveld, 2023. "Overcoming attenuation bias in regressions using polygenic indices," Nature Communications, Nature, vol. 14(1), pages 1-16, December.
    4. Jennifer Sjaarda & Zoltán Kutalik, 2023. "Partner choice, confounding and trait convergence all contribute to phenotypic partner similarity," Nature Human Behaviour, Nature, vol. 7(5), pages 776-789, May.

    Most related items

    These are the items that most often cite the same works as this one and are cited by the same works as this one.
    1. Matteo Di Scipio & Mohammad Khan & Shihong Mao & Michael Chong & Conor Judge & Nazia Pathan & Nicolas Perrot & Walter Nelson & Ricky Lali & Shuang Di & Robert Morton & Jeremy Petch & Guillaume Paré, 2023. "A versatile, fast and unbiased method for estimation of gene-by-environment interaction effects on biobank-scale datasets," Nature Communications, Nature, vol. 14(1), pages 1-15, December.
    2. Vincent Michaud & Eulalie Lasseaux & David J. Green & Dave T. Gerrard & Claudio Plaisant & Tomas Fitzgerald & Ewan Birney & Benoît Arveiler & Graeme C. Black & Panagiotis I. Sergouniotis, 2022. "The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism," Nature Communications, Nature, vol. 13(1), pages 1-8, December.
    3. Dick Schijven & Sourena Soheili-Nezhad & Simon E. Fisher & Clyde Francks, 2024. "Exome-wide analysis implicates rare protein-altering variants in human handedness," Nature Communications, Nature, vol. 15(1), pages 1-12, December.
    4. Sylvia Hartmann & Summaira Yasmeen & Benjamin M. Jacobs & Spiros Denaxas & Munir Pirmohamed & Eric R. Gamazon & Mark J. Caulfield & Harry Hemingway & Maik Pietzner & Claudia Langenberg, 2023. "ADRA2A and IRX1 are putative risk genes for Raynaud’s phenomenon," Nature Communications, Nature, vol. 14(1), pages 1-11, December.
    5. Mit Shah & Marco H. A. Inácio & Chang Lu & Pierre-Raphaël Schiratti & Sean L. Zheng & Adam Clement & Antonio Marvao & Wenjia Bai & Andrew P. King & James S. Ware & Martin R. Wilkins & Johanna Mielke &, 2023. "Environmental and genetic predictors of human cardiovascular ageing," Nature Communications, Nature, vol. 14(1), pages 1-15, December.
    6. Zhening Liu & Hangkai Huang & Jiarong Xie & Yingying Xu & Chengfu Xu, 2024. "Circulating fatty acids and risk of hepatocellular carcinoma and chronic liver disease mortality in the UK Biobank," Nature Communications, Nature, vol. 15(1), pages 1-10, December.
    7. Junqing Xie & Shuo Feng & Xintong Li & Ester Gea-Mallorquí & Albert Prats-Uribe & Dani Prieto-Alhambra, 2022. "Comparative effectiveness of the BNT162b2 and ChAdOx1 vaccines against Covid-19 in people over 50," Nature Communications, Nature, vol. 13(1), pages 1-8, December.
    8. Romain Fournier & Zoi Tsangalidou & David Reich & Pier Francesco Palamara, 2023. "Haplotype-based inference of recent effective population size in modern and ancient DNA samples," Nature Communications, Nature, vol. 14(1), pages 1-13, December.
    9. Nicole Deflaux & Margaret Sunitha Selvaraj & Henry Robert Condon & Kelsey Mayo & Sara Haidermota & Melissa A. Basford & Chris Lunt & Anthony A. Philippakis & Dan M. Roden & Joshua C. Denny & Anjene Mu, 2023. "Demonstrating paths for unlocking the value of cloud genomics through cross cohort analysis," Nature Communications, Nature, vol. 14(1), pages 1-10, December.
    10. George B. Busby & Scott Kulm & Alessandro Bolli & Jen Kintzle & Paolo Di Domenico & Giordano Bottà, 2023. "Ancestry-specific polygenic risk scores are risk enhancers for clinical cardiovascular disease assessments," Nature Communications, Nature, vol. 14(1), pages 1-11, December.
    11. van den Berg, Gerard J. & von Hinke, Stephanie & Wang, R. Adele H., 2022. "Prenatal Sugar Consumption and Late-Life Human Capital and Health: Analyses Based on Postwar Rationing and Polygenic Scores," IZA Discussion Papers 15544, Institute of Labor Economics (IZA).
    12. Xingjie Hao & Zhonghe Shao & Ning Zhang & Minghui Jiang & Xi Cao & Si Li & Yunlong Guan & Chaolong Wang, 2023. "Integrative genome-wide analyses identify novel loci associated with kidney stones and provide insights into its genetic architecture," Nature Communications, Nature, vol. 14(1), pages 1-12, December.
    13. Ruoyu Tian & Tian Ge & Hyeokmoon Kweon & Daniel B. Rocha & Max Lam & Jimmy Z. Liu & Kritika Singh & Daniel F. Levey & Joel Gelernter & Murray B. Stein & Ellen A. Tsai & Hailiang Huang & Christopher F., 2024. "Whole-exome sequencing in UK Biobank reveals rare genetic architecture for depression," Nature Communications, Nature, vol. 15(1), pages 1-12, December.
    14. Isabelle Austin-Zimmerman & Daniel F. Levey & Olga Giannakopoulou & Joseph D. Deak & Marco Galimberti & Keyrun Adhikari & Hang Zhou & Spiros Denaxas & Haritz Irizar & Karoline Kuchenbaecker & Andrew M, 2023. "Genome-wide association studies and cross-population meta-analyses investigating short and long sleep duration," Nature Communications, Nature, vol. 14(1), pages 1-15, December.
    15. Magdalena Zimoń & Yunfeng Huang & Anthi Trasta & Aliaksandr Halavatyi & Jimmy Z. Liu & Chia-Yen Chen & Peter Blattmann & Bernd Klaus & Christopher D. Whelan & David Sexton & Sally John & Wolfgang Hube, 2021. "Pairwise effects between lipid GWAS genes modulate lipid plasma levels and cellular uptake," Nature Communications, Nature, vol. 12(1), pages 1-16, December.
    16. Alexandre Vallée, 2023. "Association between Social Isolation and Loneliness with Estimated Atherosclerotic Cardiovascular Disease Risk in a UK Biobank Population-Based Study," IJERPH, MDPI, vol. 20(4), pages 1-12, February.
    17. Parsa Akbari & Olukayode A. Sosina & Jonas Bovijn & Karl Landheer & Jonas B. Nielsen & Minhee Kim & Senem Aykul & Tanima De & Mary E. Haas & George Hindy & Nan Lin & Ian R. Dinsmore & Jonathan Z. Luo , 2022. "Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes," Nature Communications, Nature, vol. 13(1), pages 1-17, December.
    18. von Hinke, Stephanie & Sørensen, Emil N., 2023. "The long-term effects of early-life pollution exposure: Evidence from the London smog," Journal of Health Economics, Elsevier, vol. 92(C).
    19. Dominic Russ & John A Williams & Victor Roth Cardoso & Laura Bravo-Merodio & Samantha C Pendleton & Furqan Aziz & Animesh Acharjee & Georgios V Gkoutos, 2022. "Evaluating the detection ability of a range of epistasis detection methods on simulated data for pure and impure epistatic models," PLOS ONE, Public Library of Science, vol. 17(2), pages 1-19, February.
    20. Carla Márquez-Luna & Steven Gazal & Po-Ru Loh & Samuel S. Kim & Nicholas Furlotte & Adam Auton & Alkes L. Price, 2021. "Incorporating functional priors improves polygenic prediction accuracy in UK Biobank and 23andMe data sets," Nature Communications, Nature, vol. 12(1), pages 1-11, December.

    More about this item

    Statistics

    Access and download statistics

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:nat:natcom:v:13:y:2022:i:1:d:10.1038_s41467-022-28294-9. See general information about how to correct material in RePEc.

    If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.

    If CitEc recognized a bibliographic reference but did not link an item in RePEc to it, you can help with this form .

    If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: Sonal Shukla or Springer Nature Abstracting and Indexing (email available below). General contact details of provider: http://www.nature.com .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.