Abstract
Purpose :
Sjögren syndrome (SS) is an autoimmune condition, often accompanied by severe dry eye disease. The purpose of this study was to investigate immune-related molecular pathways activated in the ocular surface of SS patients.
Methods :
After signing the informed consent, four SS female patients and three age- and gender-matched healthy controls (HC) completed a series of ocular surface tests and questionnaires. We collected impression cytology (IC) samples of the temporal bulbar conjunctivas using the Eyeprim™ device. The cells collected were then lysed and subjected to gene expression analysis using the nCounter® Nanostring Immunology Panel (Human V2).
Results :
All patients fulfilled the EULAR criteria for SS; SS patients as compared with HC presented with OSDI questionnaire scores of 51.7±10.3 vs 11.3±6.3, respectively. SS patients had higher corneal and conjunctival fluorescein staining scores (8.1±3.1 vs. 0.33±0.57, 5.37±1.25 vs. 0.33±0.57) and lower Schirmer tests (6.7±6.5 vs. 32.8±3.7 mm, respectively). From the 594 genes included in the Nanostring panel, 475 showed read counts above the cut-off in the human conjunctivas. Among these, expression of 22 genes was significantly different between SS and HC. Twenty of these genes were upregulated. Those genes were primarily associated with Type I and II interferon as well as TLR/NLR/NF-kB signaling (IFI35, IFITM1, IRF3, IRF7, MX1, PTPN6, MAPK1, IRAK1, MYD88, LY96, TNFRSF14, CEACAM1, KIT and LAMP3). Five genes were related to B cell signaling (IFITM1, PTPN6, BLNK, RAF1 and SYK), two to Th17 differentiation (MAPK1 and RORC) and four to apoptosis (LY96, RAF1, CASP3 and CD82). The down-regulated genes in SS conjunctivas were TGFBR1 and ATG10.
Conclusions :
These data indicate that SS patients exhibit a phenotype of immune activation in the conjunctiva, mainly associated with the response to microorganisms.
This is a 2020 ARVO Annual Meeting abstract.