Exploring the Associated Genetic Causes of Diabetic Retinopathy as a Model of Inflammation in Retinal Diseases

Francesco Cappellani, Carl D. Regillo, Julia A. Haller, Caterina Gagliano, Jose S. Pulido

Research output: Contribution to journalArticlepeer-review

Abstract

To investigate potential biomarkers and biological processes associated with diabetic retinopathy (DR) using transcriptomic and proteomic data. The OmicsPred PheWAS application was interrogated to identify genes and proteins associated with DR and diabetes mellitus (DM) at a false discovery rate (FDR)-adjusted p-value of <0.05 and also <0.005. Gene Ontology PANTHER analysis and STRING database analysis were conducted to explore the biological processes and protein interactions related to the identified biomarkers. The interrogation identified 49 genes and 22 proteins associated with DR and/or DM; these were divided into those uniquely associated with diabetic retinopathy, uniquely associated with diabetes mellitus, and the ones seen in both conditions. The Gene Ontology PANTHER and STRING database analyses highlighted associations of several genes and proteins associated with diabetic retinopathy with adaptive immune response, valyl-TRNA aminoacylation, complement activation, and immune system processes. Our analyses highlight potential transcriptomic and proteomic biomarkers for DR and emphasize the association of known aspects of immune response, the complement system, advanced glycosylation end-product formation, and specific receptor and mitochondrial function with DR pathophysiology. These findings may suggest pathways for future research into novel diagnostic and therapeutic strategies for DR.

Original languageEnglish
Article number5456
JournalInternational Journal of Molecular Sciences
Volume25
Issue number10
DOIs
StatePublished - May 2024
Externally publishedYes

Keywords

  • OmicsPred
  • advanced glycosylation end-product receptor
  • complement system
  • diabetic retinopathy
  • immune system
  • inflammation
  • omics
  • proteomics
  • transcriptomics

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