Fibromuscular dysplasia (FMD) is a poorly understood blood vessel disorder that affects up to 5% of adults. Using a systems genetics approach, we identified an FMD-associated gene co-expression network that governs vascular cell function and developed a mouse model of FMD that recapitulates certain aspects of the human disease.
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References
Leadbetter, W. F. & Burkland, C. R. Hypertension in unilateral renal disease. J. Urol. 39, 611–626 (1938). This article provided the first description of FMD.
Persu, A. et al. Current progress in clinical, molecular, and genetic aspects of adult fibromuscular dysplasia. Cardiovasc. Res. 118, 65–83 (2022). This is a recent review article on FMD.
Georges, A. et al. Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases. Nat. Commun. 12, 6031 (2021). This international GWAS meta-analysis identified five loci associated with FMD.
Bjorkegren, J. L. M., Kovacic, J. C., Dudley, J. T. & Schadt, E. E. Genome-wide significant loci: how important are they? Systems genetics to understand heritability of coronary artery disease and other common complex disorders. J. Am. Coll. Cardiol. 65, 830–845 (2015). This review provides a critical look at GWASs and argues that systems biology holds great promise for understanding complex diseases.
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This is a summary of: d’Escamard, V. et al. Integrative gene regulatory network analysis discloses key driver genes of fibromuscular dysplasia. Nat. Cardiovasc. Res. https://doi.org/10.1038/s44161-024-00533-w (2024).
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Identifying a gene-regulatory network that drives fibromuscular dysplasia. Nat Cardiovasc Res 3, 1033–1034 (2024). https://doi.org/10.1038/s44161-024-00534-9
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DOI: https://doi.org/10.1038/s44161-024-00534-9
