Circular RNA expression profile identifies potential circulating biomarkers for keratoconus.

Area of Science:

• Ophthalmology
• Molecular Biology
• Genetics

Background:

• Early diagnosis of keratoconus (KC) is crucial for effective management and improved patient outcomes.
• Circular RNAs (circRNAs) possess stable expression and unique structures, making them promising candidates for disease biomarkers.
• The role and expression patterns of circRNAs in KC remain largely unexplored.

Purpose of the Study:

• To investigate the circRNA expression profile in keratoconus corneas.
• To identify potential circRNA biomarkers in peripheral blood for the early diagnosis of KC.
• To explore the correlation between specific circRNAs and KC clinical parameters.

Main Methods:

• Transcriptome sequencing was employed to analyze circRNA expression in KC corneal tissues.
• circRNA expression levels were quantified in paired blood samples from KC patients and healthy controls.
• Statistical analyses, including fold change, p-value, and area under the curve (AUC), were used to identify and validate differentially expressed circRNAs.

Main Results:

• A significant number of differentially expressed circRNAs were identified in KC corneal tissues (107 upregulated, 145 downregulated).
• Four circRNAs (circ_0006156, circ_0006117, circ_0000284, and circ_0001801) were found to be significantly downregulated in the peripheral blood of KC patients.
• The expression levels of these circRNAs, particularly circ_0000284, showed diagnostic potential, with a combined logistic regression model achieving an AUC of 0.8203.

Conclusions:

• circRNA expression is significantly altered in keratoconus.
• circ_0000284, circ_0001801, and circ_0006117 show potential as non-invasive biomarkers for keratoconus diagnosis.
• These circRNAs may aid in early detection and monitoring of keratoconus progression.