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Total genetic contribution assessment across the human genome

Author

Listed:
  • Ting Li

    (Sun Yat-sen University)

  • Zheng Ning

    (Sun Yat-sen University
    Karolinska Institutet)

  • Zhijian Yang

    (Sun Yat-sen University)

  • Ranran Zhai

    (Sun Yat-sen University)

  • Chenqing Zheng

    (Sun Yat-sen University)

  • Wenzheng Xu

    (Sun Yat-sen University)

  • Yipeng Wang

    (Sun Yat-sen University)

  • Kejun Ying

    (Sun Yat-sen University
    Brigham and Women’s Hospital and Harvard Medical School
    Harvard University)

  • Yiwen Chen

    (Sun Yat-sen University
    Uppsala University)

  • Xia Shen

    (Sun Yat-sen University
    Karolinska Institutet
    University of Edinburgh)

Abstract

Quantifying the overall magnitude of every single locus’ genetic effect on the widely measured human phenome is of great challenge. We introduce a unified modelling technique that can consistently provide a total genetic contribution assessment (TGCA) of a gene or genetic variant without thresholding genetic association signals. Genome-wide TGCA in five UK Biobank phenotype domains highlights loci such as the HLA locus for medical conditions, the bone mineral density locus WNT16 for physical measures, and the skin tanning locus MC1R and smoking behaviour locus CHRNA3 for lifestyle. Tissue-specificity investigation reveals several tissues associated with total genetic contributions, including the brain tissues for mental health. Such associations are driven by tissue-specific gene expressions, which share genetic basis with the total genetic contributions. TGCA can provide a genome-wide atlas for the overall genetic contributions in each particular domain of human complex traits.

Suggested Citation

  • Ting Li & Zheng Ning & Zhijian Yang & Ranran Zhai & Chenqing Zheng & Wenzheng Xu & Yipeng Wang & Kejun Ying & Yiwen Chen & Xia Shen, 2021. "Total genetic contribution assessment across the human genome," Nature Communications, Nature, vol. 12(1), pages 1-9, December.
    • Handle: RePEc:nat:natcom:v:12:y:2021:i:1:d:10.1038_s41467-021-23124-w
    DOI: 10.1038/s41467-021-23124-w
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