Understanding the function of regulatory DNA interactions in the interpretation of non-coding GWAS variants

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  • Zhong, Wujuan
    • Other Affiliation: Merck & Co, Inc
  • Liu, Weifang
    • Affiliation: Gillings School of Global Public Health, Department of Biostatistics
  • Chen, Jiawen
    • Affiliation: Gillings School of Global Public Health, Department of Biostatistics
  • Sun, Quan
    • Affiliation: Gillings School of Global Public Health, Department of Biostatistics
  • Hu, Ming
    • Other Affiliation: Cleveland Clinic Foundation
  • Li, Yun
    • Affiliation: Gillings School of Global Public Health, Department of Biostatistics
Abstract
  • Genome-wide association studies (GWAS) have identified a vast number of variants associated with various complex human diseases and traits. However, most of these GWAS variants reside in non-coding regions producing no proteins, making the interpretation of these variants a daunting challenge. Prior evidence indicates that a subset of non-coding variants detected within or near cis-regulatory elements (e.g., promoters, enhancers, silencers, and insulators) might play a key role in disease etiology by regulating gene expression. Advanced sequencing- and imaging-based technologies, together with powerful computational methods, enabling comprehensive characterization of regulatory DNA interactions, have substantially improved our understanding of the three-dimensional (3D) genome architecture. Recent literature witnesses plenty of examples where using chromosome conformation capture (3C)-based technologies successfully links non-coding variants to their target genes and prioritizes relevant tissues or cell types. These examples illustrate the critical capability of 3D genome organization in annotating non-coding GWAS variants. This review discusses how 3D genome organization information contributes to elucidating the potential roles of non-coding GWAS variants in disease etiology.
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  • Article
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  • In Copyright
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  • Attribution 4.0 International
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  • Frontiers in Cell and Developmental Biology
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  • 10
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  • English
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  • 2296-634X

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