June 2022
Volume 63, Issue 7
Open Access
ARVO Annual Meeting Abstract  |   June 2022
Peripheral blood transcriptome in Sjögren Syndrome: Insights from the Sjögren’s International Collaborative Clinical Alliance
Author Affiliations & Notes
  • John Alexander Gonzales
    Francis I. Proctor Foundation, University of California San Francisco, University of California San Francisco, San Francisco, CA, US, academic, San Francisco, California, United States
  • Jeremy Nortey
    Francis I. Proctor Foundation, University of California San Francisco, University of California San Francisco, San Francisco, CA, US, academic, San Francisco, California, United States
  • Elisabeth Gebreegaziabher
    Francis I. Proctor Foundation, University of California San Francisco, University of California San Francisco, San Francisco, CA, US, academic, San Francisco, California, United States
  • Armin Hinterwirth
    Francis I. Proctor Foundation, University of California San Francisco, University of California San Francisco, San Francisco, CA, US, academic, San Francisco, California, United States
  • Lina Zhong
    Francis I. Proctor Foundation, University of California San Francisco, University of California San Francisco, San Francisco, CA, US, academic, San Francisco, California, United States
  • Cindy Chen
    Francis I. Proctor Foundation, University of California San Francisco, University of California San Francisco, San Francisco, CA, US, academic, San Francisco, California, United States
  • Thuy Doan
    Francis I. Proctor Foundation, University of California San Francisco, University of California San Francisco, San Francisco, CA, US, academic, San Francisco, California, United States
  • Footnotes
    Commercial Relationships   John Gonzales None; Jeremy Nortey None; Elisabeth Gebreegaziabher None; Armin Hinterwirth None; Lina Zhong None; Cindy Chen None; Thuy Doan None
  • Footnotes
    Support  NIH Grant K23 EY026998
Investigative Ophthalmology & Visual Science June 2022, Vol.63, 1518 – A0243. doi:
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      John Alexander Gonzales, Jeremy Nortey, Elisabeth Gebreegaziabher, Armin Hinterwirth, Lina Zhong, Cindy Chen, Thuy Doan; Peripheral blood transcriptome in Sjögren Syndrome: Insights from the Sjögren’s International Collaborative Clinical Alliance. Invest. Ophthalmol. Vis. Sci. 2022;63(7):1518 – A0243.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : To identify a peripheral blood transcriptome that distinguishes Sjögren Syndrome (SS) from non-Sjögren Syndrome. SS is an underdiagnosed condition in patients with dry eye disease.

Methods : Cross-sectional study of participants from Sjögren’s International Collaborative Clinical Alliance (SICCA) UCSF sub-cohort returning for up to 15-year follow-up. Participants were classified using the universally accepted American College of Rheumatology/European League Against Rheumatism SS criteria. All participants had slit lamp examination performed including determination of the ocular staining score (corneal staining with fluorescein and conjunctival staining with lissamine green). Additionally, whole peripheral blood was collected into PAXgene RNA tubes (QIAGEN, Germantown, MD) and then submitted for metagenomic sequencing for differential gene expression. Sequenced data were quality filtered and aligned to the ENSEMBL CRCh38 human genome using STAR2. Genes were filtered to include only protein-coding genes that were expressed in at least 25% of the patients. Gene count data were analyzed with DESeq2. Differentially expressed genes with false discovery rate (FDR) <0.01 were considered as notable.

Results : Fourteen participants (10 SS and 4 non-SS) were recruited for up to 15-year follow-up. The ocular staining score remained stable up to 15 years of follow-up in both SS and non-SS groups. However, we identified 6 differentially expressed genes distinguishing SS from non-SS. The genes included OAS3, IFIT1, RSAD2, IFI44L, ISG15, and OASL, all genes that are involved in the canonical interferon pathway.

Conclusions : In those classified as SS, a robust peripheral blood transcriptome distinguishes them from non-SS. The differentially expressed genes, which are related to the interferon pathway, may indicate candidate genes for further study, which could be used as future additional biomarkers of SS and may guide future treatment options.

This abstract was presented at the 2022 ARVO Annual Meeting, held in Denver, CO, May 1-4, 2022, and virtually.

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