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Complex traits

Context-specific regulatory variants in precision medicine and agriculture

Nature Reviews Genetics volume 26, page 81 (2025)Cite this article

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Bridging the gap between genome and phenome is of paramount importance for the development of precision medicine and agriculture. However, the majority of complex trait-associated variants discovered by genome-wide association studies (GWAS) are non-coding and act by regulating intermediate molecular phenotypes (for example, epigenetic modifications and gene expression). Therefore, it is essential to investigate when and where a genomic variant exerts its effect on gene regulation to ultimately influence a complex trait. Among the many approaches for characterizing regulatory effects, population-based molecular quantitative trait loci (molQTL) mapping — to statistically link genetic variants to molecular phenotypes in a natural population — is a key method that can systematically measure in vivo regulatory effects in various biological contexts (for example, tissue or cell type and developmental stage) and environmental conditions (for example, climate and pathogen exposure).

“it is essential to investigate when and where a genomic variant exerts its effect on gene regulation to ultimately influence complex traits”

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References

Original articles

  • Berm, B. R. et al. Genetic dissection of transcriptional regulation in budding yeast. Science 296, 752–755 (2002)

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  • The GTEx Consortium. The GTEx Consortium atlas of genetic regulatory effects across human tissues. Science 369, 1318–1330 (2020)

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Authors and Affiliations

  1. Center for Quantitative Genetics and Genomics, Aarhus University, Aarhus, Denmark

    Lingzhao Fang

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  1. Lingzhao Fang
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Correspondence to Lingzhao Fang.

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The author declares no competing interests.

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Fang, L. Context-specific regulatory variants in precision medicine and agriculture. Nat Rev Genet 26, 81 (2025). https://doi.org/10.1038/s41576-024-00798-8

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  • DOI: https://doi.org/10.1038/s41576-024-00798-8

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