Session Type: ACR Concurrent Abstract Session
Session Time: 9:00AM-10:30AM
Background/Purpose: Punch biopsy, the standard diagnostic and monitoring procedure for patients with cutaneous lupus erythematosus (CLE), impedes patient recruitment and follow up due to risk of infection, discomfort and cosmetic scarring. This study assessed the feasibility of an adhesive tape device from Dermtech, Inc to collect RNA from affected and unaffected skin and its potential to detect gene expression differences between groups.
Methods: Subjects with active discoid lupus erythematosus (DLE; n=9), subacute CLE (SCLE; n=1), atopic dermatitis (AD; n=3) and healthy volunteers (HV; n=10) were enrolled. Skin tape samples from affected (A) and unaffected (U) skin were collected from all subjects. Gene expression was quantified by qPCR on the OpenArray platform. Candidate genes (n=94) were grouped by differential expression using consensus K-means and hierarchical clustering. Distinct gene clusters were assigned to canonical pathways using tools in Ingenuity Pathway Analysis (Invitrogen) software.
Results: Using an unbiased clustering algorithm, genes amplified from skin RNA collected by tape were segregated into 6 clusters. Two of 6 clusters resulted in differential expression between both CLE-A vs HV, and CLE-A vs CLE-U, as follows: (Cluster 1) composed largely of type I interferon (IFN-I) signaling genes (n=18 genes, fold change 23 and 7, p<0.001 and p=0.002, respectively) and (Cluster 2) containing genes involved in cytotoxic T lymphocyte and natural killer (NK) cell-mediated apoptosis, communication between innate and adaptive immune cells, and cytokines and chemokines in viral infection (n=22 genes, fold change 5 and 3, p<0.001 and p=0.007).
Conclusion: RNA from the skin surface distinguishes CLE-A from HV skin and CLE-A from CLE-U skin with robust fold changes in genes implicated in CLE pathogenesis including IFN-I signaling and cytotoxic T lymphocyte and NK cell-mediated apoptosis. This non-invasive technique offers promise for the diagnosis, stratification and follow up of patients with CLE.
To cite this abstract in AMA style:Merola JF, Wang W, Wager C, Hamann S, Zhang X, Thai A, Roberts C, Lam C, Musselli C, Marsh G, Rabah D, Barbey C, Franchimont N, Reynolds TL. Non-Invasive Tape Sampling Reveals RNA Gene Clusters in Cutaneous Lupus Erythematosus That Discriminate Affected from Unaffected and Healthy Volunteer Skin [abstract]. Arthritis Rheumatol. 2018; 70 (suppl 10). https://acrabstracts.org/abstract/non-invasive-tape-sampling-reveals-rna-gene-clusters-in-cutaneous-lupus-erythematosus-that-discriminate-affected-from-unaffected-and-healthy-volunteer-skin/. Accessed July 2, 2020.
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