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Published on: May 19, 2023
Variant-to-function approaches for adipose tissue: Insights into cardiometabolic disorders
Sophia Metz1, Jonathan Robert Belanich2, Melina Claussnitzer3
1Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, 2200 Copenhagen, Denmark; The Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Programs in Metabolism and Medical & Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
This study explores how genetic variants linked to cardiometabolic disorders affect adipose tissue function. It proposes variant-to-function (V2F) approaches to understand these mechanisms and guide future research.
Area of Science:
- Genetics
- Metabolism
- Molecular Biology
Background:
- Genome-wide association studies (GWASs) have identified numerous genetic loci associated with cardiometabolic disorders.
- Functional interpretation of these loci, especially in adipose tissue, is challenging but crucial for understanding disease pathogenesis.
- Adipose tissue plays a critical role in systemic metabolism and cardiometabolic disease development.
Purpose of the Study:
- To discuss variant-to-function (V2F) approaches for elucidating mechanisms of GWAS loci influencing adipose tissue.
- To identify GWAS traits and tools for pinpointing causal variants, genes, and cell types in adipose tissue.
- To outline methods for linking genetic variants to cellular phenotypes and physiological mechanisms in cardiometabolic disorders.
Main Methods:
- Utilizing variant-to-function (V2F) approaches to interpret GWAS findings.
- Identifying GWAS traits and employing tools to pinpoint causal variants, genes, and cell types.
- Applying large-scale perturbation experiments, imaging, and multi-omics to assess variant effects on cellular phenotypes.
- Connecting cellular phenotypes to physiological mechanisms relevant to cardiometabolic diseases.
Main Results:
- Discussion of V2F approaches to link genetic loci to adipose tissue function and cardiometabolic risk.
- Outline of strategies for identifying adipose-related variants and their functional consequences.
- Framework for integrating multi-omics and perturbation data to understand variant effects.
Conclusions:
- V2F approaches are essential for functionally interpreting GWAS loci in adipose tissue.
- A roadmap is proposed for future V2F research to advance understanding of cardiometabolic disorders.
- Elucidating variant effects on adipose tissue function can reveal novel therapeutic targets.
