Pulse Brain · Growing Health Evidence Index
Tier 3 — Observational / field trialPeer-reviewed

Genome-wide enhancer maps link risk variants to disease genes

Joseph Nasser, Drew T. Bergman, Charles P. Fulco, Philine Guckelberger, Benjamin R. Doughty, Tejal A. Patwardhan, Thouis R. Jones, Tung H. Nguyen, Jacob C. Ulirsch, Fritz Lekschas, Kristy S. Mualim, Heini M. Natri, E. Weeks, Glen Munson, Michael Kane, Helen Kang, Ang Cui, John Ray, Thomas Eisenhaure, Ryan L. Collins, Kushal K. Dey, Hanspeter Pfister, Alkes L. Price, Charles B. Epstein, Anshul Kundaje, Ramnik J. Xavier, Mark J. Daly, Hailiang Huang, Hilary K. Finucane, Nir Hacohen, Eric S. Lander, J Engreitz

Nature · 2021

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Summary

This Nature study presents a genome-wide map of enhancers integrated across diverse cell types and tissues, enabling the linking of disease-associated genetic risk variants to their causal target genes. By combining epigenomic data with disease genetics, the authors propose a framework for understanding how non-coding variants influence disease risk through gene regulation. The work is likely to inform future functional genomics research on complex disease mechanisms, though its direct application to agricultural or nutritional phenotypes is not evident from the title.

UK applicability

This is fundamentally a human disease genomics paper with limited direct applicability to UK farming systems or agricultural policy. However, the methodological framework for linking regulatory variants to genes may have distant relevance to livestock genomics or crop breeding programmes seeking to understand causal variants underlying complex traits.

Key measures

Enhancer-gene linkage maps; disease variant-to-gene associations; cell-type-specific regulatory elements

Outcomes reported

The study mapped genome-wide enhancers and linked disease-associated genetic variants to their target genes, providing mechanistic insights into how non-coding risk variants contribute to disease aetiology. The research integrated enhancer maps across multiple cell types and tissues to identify causal gene targets for complex disease risk loci.

Theme
Nutrition & health
Subject
Other / interdisciplinary
Study type
Research
Study design
Laboratory / computational analysis
Source type
Peer-reviewed study
Status
Published
Geography
United States
System type
Laboratory / in vitro
DOI
10.1038/s41586-021-03446-x
Catalogue ID
SNmoj1y4po-bcxcfj

Topic tags

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