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A transcriptome-wide Mendelian randomization study to uncover tissue-dependent regulatory mechanisms across the human phenome

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  • Tom G. Richardson

    (University of Bristol, Oakfield House, Oakfield Grove)

  • Gibran Hemani

    (University of Bristol, Oakfield House, Oakfield Grove)

  • Tom R. Gaunt

    (University of Bristol, Oakfield House, Oakfield Grove)

  • Caroline L. Relton

    (University of Bristol, Oakfield House, Oakfield Grove)

  • George Davey Smith

    (University of Bristol, Oakfield House, Oakfield Grove)

Abstract

Developing insight into tissue-specific transcriptional mechanisms can help improve our understanding of how genetic variants exert their effects on complex traits and disease. In this study, we apply the principles of Mendelian randomization to systematically evaluate transcriptome-wide associations between gene expression (across 48 different tissue types) and 395 complex traits. Our findings indicate that variants which influence gene expression levels in multiple tissues are more likely to influence multiple complex traits. Moreover, detailed investigations of our results highlight tissue-specific associations, drug validation opportunities, insight into the likely causal pathways for trait-associated variants and also implicate putative associations at loci yet to be implicated in disease susceptibility. Similar evaluations can be conducted at http://mrcieu.mrsoftware.org/Tissue_MR_atlas/.

Suggested Citation

  • Tom G. Richardson & Gibran Hemani & Tom R. Gaunt & Caroline L. Relton & George Davey Smith, 2020. "A transcriptome-wide Mendelian randomization study to uncover tissue-dependent regulatory mechanisms across the human phenome," Nature Communications, Nature, vol. 11(1), pages 1-11, December.
    • Handle: RePEc:nat:natcom:v:11:y:2020:i:1:d:10.1038_s41467-019-13921-9
    DOI: 10.1038/s41467-019-13921-9
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    Cited by:

    1. Ryo Yamamoto & Ryan Chung & Juan Manuel Vazquez & Huanjie Sheng & Philippa L. Steinberg & Nilah M. Ioannidis & Peter H. Sudmant, 2022. "Tissue-specific impacts of aging and genetics on gene expression patterns in humans," Nature Communications, Nature, vol. 13(1), pages 1-12, December.
    2. Minhui Chen & Andy Dahl, 2024. "A robust model for cell type-specific interindividual variation in single-cell RNA sequencing data," Nature Communications, Nature, vol. 15(1), pages 1-12, December.

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