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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.

Titel:	Exploring the Associated Genetic Causes of Diabetic Retinopathy as a Model of Inflammation in Retinal Diseases.
Autor/in / Beteiligte Person:	Cappellani, F ; Regillo, CD ; Haller, JA ; Gagliano, C ; Pulido, JS
Link:	Full Text Finder (Volltext)
Zeitschrift:	International journal of molecular sciences, Jg. 25 (2024-05-17), Heft 10
Veröffentlichung:	Basel, Switzerland : MDPI, [2000-, 2024
Medientyp:	academicJournal
ISSN:	1422-0067 (electronic)
DOI:	10.3390/ijms25105456
Schlagwort:	Humans Proteomics methods Transcriptome Gene Ontology Protein Interaction Maps genetics Gene Expression Profiling Diabetic Retinopathy genetics Diabetic Retinopathy metabolism Biomarkers Inflammation genetics Inflammation metabolism
Sonstiges:	Nachgewiesen in: MEDLINE Sprachen: English Publication Type: Journal Article Language: English [Int J Mol Sci] 2024 May 17; Vol. 25 (10). <i>Date of Electronic Publication: </i>2024 May 17. MeSH Terms: Diabetic Retinopathy* / genetics ; Diabetic Retinopathy* / metabolism ; Biomarkers* ; Inflammation* / genetics ; Inflammation* / metabolism ; Humans ; Proteomics / methods ; Transcriptome ; Gene Ontology ; Protein Interaction Maps / genetics ; Gene Expression Profiling References: Front Immunol. 2022 Dec 13;13:1055087. (PMID: 36582230) ; Front Immunol. 2020 Feb 11;11:154. (PMID: 32117292) ; FASEB J. 2004 Sep;18(12):1450-2. (PMID: 15231732) ; Curr Diab Rep. 2014 Aug;14(8):515. (PMID: 24952107) ; JAMA Ophthalmol. 2023 Aug 1;141(8):747-754. (PMID: 37318810) ; Invest Ophthalmol Vis Sci. 2020 Sep 1;61(11):39. (PMID: 32965482) ; Genes (Basel). 2023 Mar 05;14(3):. (PMID: 36980925) ; J Ocul Biol Dis Infor. 2013 Apr 19;5(3-4):63-9. (PMID: 24596941) ; Cell Metab. 2023 Apr 4;35(4):695-710.e6. (PMID: 36963395) ; Prog Retin Eye Res. 2015 Sep;48:40-61. (PMID: 25975734) ; Antioxidants (Basel). 2020 Sep 23;9(10):. (PMID: 32977483) ; Diabetologia. 2015 May;58(5):1129-37. (PMID: 25687235) ; Genome Biol. 2017 May 5;18(1):83. (PMID: 28476144) ; Antioxidants (Basel). 2022 Nov 15;11(11):. (PMID: 36421435) ; Protein Sci. 2022 Jan;31(1):8-22. (PMID: 34717010) ; Int J Mol Sci. 2019 Sep 25;20(19):. (PMID: 31557880) ; Trans Am Ophthalmol Soc. 1996;94:1029-72. (PMID: 8981718) ; Int J Mol Sci. 2018 Jun 20;19(6):. (PMID: 29925789) ; J Clin Med. 2022 Nov 02;11(21):. (PMID: 36362727) ; Genes (Basel). 2021 Jul 31;12(8):. (PMID: 34440374) ; Nucleic Acids Res. 2023 Jan 6;51(D1):D638-D646. (PMID: 36370105) ; Ann Transl Med. 2022 May;10(10):562. (PMID: 35722432) ; Vision Res. 2017 Oct;139:39-46. (PMID: 28571700) ; Mol Immunol. 2007 Sep;44(16):3901-8. (PMID: 17768108) ; Nature. 2023 Apr;616(7955):123-131. (PMID: 36991119) ; J Cell Mol Med. 2018 Dec;22(12):6087-6098. (PMID: 30246940) ; Nature. 2018 Oct;562(7726):203-209. (PMID: 30305743) ; JAMA Ophthalmol. 2014 Jan;132(1):96-107. (PMID: 24201651) ; Eur J Pharmacol. 2016 Sep 15;787:94-104. (PMID: 26948311) ; Int J Mol Sci. 2022 Jun 30;23(13):. (PMID: 35806332) ; Arterioscler Thromb. 1994 Oct;14(10):1521-8. (PMID: 7918300) Grant Information: 000000 J. Arch McNamara Retinal Research Fund at the Wills Eye Hospital. Contributed Indexing: Keywords: OmicsPred; advanced glycosylation end-product receptor; complement system; diabetic retinopathy; immune system; inflammation; omics; proteomics; transcriptomics Substance Nomenclature: 0 (Biomarkers) Entry Date(s): Date Created: 20240525 Date Completed: 20240525 Latest Revision: 20240527 Update Code: 20240527 PubMed Central ID: PMC11121794

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