The Human Extracellular Matrix Diseasome Reveals Genotype-Phenotype Associations with Clinical Implications for Age-Related Diseases.
GWAS
PheWAS
SNP
collagen
data mining
drug repurposing
electronic health records
extracellular matrix
human
matreotype
matrisome
phenome
phenotype
precision medicine
Journal
Biomedicines
ISSN: 2227-9059
Titre abrégé: Biomedicines
Pays: Switzerland
ID NLM: 101691304
Informations de publication
Date de publication:
19 Apr 2023
19 Apr 2023
Historique:
received:
09
03
2023
revised:
07
04
2023
accepted:
14
04
2023
medline:
16
5
2023
pubmed:
16
5
2023
entrez:
16
5
2023
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 37189830
pii: biomedicines11041212
doi: 10.3390/biomedicines11041212
pmc: PMC10135578
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : Swiss National Science Foundation
ID : PP00P3_163898
Pays : Switzerland
Organisme : Swiss National Science Foundation
ID : 190072
Pays : Switzerland
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