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Updated: Jul 30, 2025

Scanning Electron Microscopy of Macerated Tissue to Visualize the Extracellular Matrix
Published on: June 14, 2016
The Human Extracellular Matrix Diseasome Reveals Genotype-Phenotype Associations with Clinical Implications for
Cyril Statzer1, Karan Luthria2, Arastu Sharma1
1Department of Health Sciences and Technology, Institute of Translational Medicine, Eidgenössische Technische Hochschule Zürich, Schwerzenbach, CH-8603 Zurich, Switzerland.
Abstract:
The extracellular matrix (ECM) is earning an increasingly relevant role in many disease states and aging. The analysis of these disease states is possible with the GWAS and PheWAS methodologies, and through our analysis, we aimed to explore the relationships between polymorphisms in the compendium of ECM genes (i.e., matrisome genes) in various disease states. A significant contribution on the part of ECM polymorphisms is evident in various types of disease, particularly those in the core-matrisome genes. Our results confirm previous links to connective-tissue disorders but also unearth new and underexplored relationships with neurological, psychiatric, and age-related disease states. Through our analysis of the drug indications for gene-disease relationships, we identify numerous targets that may be repurposed for age-related pathologies. The identification of ECM polymorphisms and their contributions to disease will play an integral role in future therapeutic developments, drug repurposing, precision medicine, and personalized care.
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