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Estimating heritability and genetic correlations from large health datasets in the absence of genetic data

Author

Listed:
  • Gengjie Jia

    (University of Chicago)

  • Yu Li

    (Computational Bioscience Research Center, Computer, Electrical and Mathematical Sciences and Engineering Division, King Abdullah University of Science and Technology (KAUST))

  • Hanxin Zhang

    (University of Chicago
    University of Chicago)

  • Ishanu Chattopadhyay

    (University of Chicago)

  • Anders Boeck Jensen

    (Institute for Next Generation Healthcare, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai)

  • David R. Blair

    (University of California San Francisco)

  • Lea Davis

    (Vanderbilt University)

  • Peter N. Robinson

    (Jackson Laboratory for Genomic Medicine)

  • Torsten Dahlén

    (Karolinska Institutet)

  • Søren Brunak

    (University of Copenhagen)

  • Mikael Benson

    (Linkoping University)

  • Gustaf Edgren

    (Karolinska Institutet)

  • Nancy J. Cox

    (Vanderbilt University)

  • Xin Gao

    (Computational Bioscience Research Center, Computer, Electrical and Mathematical Sciences and Engineering Division, King Abdullah University of Science and Technology (KAUST))

  • Andrey Rzhetsky

    (University of Chicago
    University of Chicago
    University of Chicago)

Abstract

Typically, estimating genetic parameters, such as disease heritability and between-disease genetic correlations, demands large datasets containing all relevant phenotypic measures and detailed knowledge of family relationships or, alternatively, genotypic and phenotypic data for numerous unrelated individuals. Here, we suggest an alternative, efficient estimation approach through the construction of two disease metrics from large health datasets: temporal disease prevalence curves and low-dimensional disease embeddings. We present eleven thousand heritability estimates corresponding to five study types: twins, traditional family studies, health records-based family studies, single nucleotide polymorphisms, and polygenic risk scores. We also compute over six hundred thousand estimates of genetic, environmental and phenotypic correlations. Furthermore, we find that: (1) disease curve shapes cluster into five general patterns; (2) early-onset diseases tend to have lower prevalence than late-onset diseases (Spearman’s ρ = 0.32, p

Suggested Citation

  • Gengjie Jia & Yu Li & Hanxin Zhang & Ishanu Chattopadhyay & Anders Boeck Jensen & David R. Blair & Lea Davis & Peter N. Robinson & Torsten Dahlén & Søren Brunak & Mikael Benson & Gustaf Edgren & Nancy, 2019. "Estimating heritability and genetic correlations from large health datasets in the absence of genetic data," Nature Communications, Nature, vol. 10(1), pages 1-11, December.
  • Handle: RePEc:nat:natcom:v:10:y:2019:i:1:d:10.1038_s41467-019-13455-0
    DOI: 10.1038/s41467-019-13455-0
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    Cited by:

    1. Gengjie Jia & Xue Zhong & Hae Kyung Im & Nathan Schoettler & Milton Pividori & D. Kyle Hogarth & Anne I. Sperling & Steven R. White & Edward T. Naureckas & Christopher S. Lyttle & Chikashi Terao & Yoi, 2022. "Discerning asthma endotypes through comorbidity mapping," Nature Communications, Nature, vol. 13(1), pages 1-19, December.

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