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John Alexander Gonzales, Jaskirat Takhar, Ashlin Joye, Nisha Acharya, Thuy Doan; Peripheral blood transcriptome in ocular sarcoidosis. Invest. Ophthalmol. Vis. Sci. 2020;61(7):4295.
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© ARVO (1962-2015); The Authors (2016-present)
To identify distinct peripheral blood transcriptomes that differentiates participants with sarcoidosis-associated uveitis from those with Vogt-Koyanagi-Harada (VKH)-associated uveitis and healthy controls.
Cross-sectional study of participants enrolled into the Biomarkers in Ocular Sarcoidosis Study at the Proctor Foundation, University of California, San Francisco.Ten participants with sarcoidosis-associated uveitis (8 with pulmonary sarcoidosis, 1 with central nervous system sarcoidosis, and 1 with conjunctival sarcoidosis), 9 participants with VKH-associated uveitis, and 8 healthy controls were enrolled into BOSS. Participants had a baseline ocular examination and provided a peripheral blood sample collected into PAXgene RNA tubes (BD Biosciences, San Jose, CA) and stored at -80 degrees Celsius. All samples were simultaneously prepared for metagenomic RNA sequencing with RNA extracted from peripheral blood. Analysis of sequenced data used an in-house rapid computational pipeline to classify host genes. Quality filtered RNA transcripts were aligned to ENSEMBL CRCh38 human genome build using STAR2. Genes were filtered to include only protein-coding genes that were expressed in at least 25% of participants and analyzed with DESeq2.
Thirty-eight transcripts were identified to be differentially expressed based on FDR <0.01 in participants with ocular sarcoidosis compared to healthy controls. These transcripts included toll-like receptor 2, MAX interactor 1, and galectin 3, which are involved in regulating innate immunity, regulation of T-cells, cell adhesion, apoptosis, or tumor suppression. Additionally, there was no overlap in the genes that were differentially expressed between the three comparison groups: sarcoidosis-control, sarcoidosis-VKH, and VKH-control, indicating distinct transcriptome profiles between disease types.
This study suggests that the whole peripheral blood transcriptional profile in ocular sarcoidosis may allow such patients to be distinguished from healthy controls. This peripheral blood transcriptional signature reflects important inflammatory pathways and suggests candidate genes may be further explored.
This is a 2020 ARVO Annual Meeting abstract.
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