Non-Invasive Tape Sampling Reveals RNA Gene Clusters in Cutaneous Lupus Erythematosus That Discriminate Affected from Unaffected and Healthy Volunteer Skin

Joseph F. Merola¹, Wenting Wang², Carrie Wager³, Stefan Hamann², Xueli Zhang³, Alice Thai², Chris Roberts², Christina Lam⁴, Cristina Musselli², Galina Marsh², Dania Rabah², Catherine Barbey⁵, Nathalie Franchimont² and Taylor L. Reynolds², ¹Clinical Unit for Research Innovation & Trials, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, ²Biogen, Cambridge, MA, ³Formerly of Biogen, Cambridge, MA, ⁴Boston University Medical School, Boston, MA, ⁵Biogen, Zug, Switzerland

Meeting: 2018 ACR/ARHP Annual Meeting

Keywords: Biomarkers, cutaneous lupus erythematosus and interferons, Gene Expression, RNA

Session Information

Date: Wednesday, October 24, 2018

Session Title: 6W010 ACR Abstract: SLE–Clinical V: Biomarkers, Criteria, & Outcomes (2928–2933)

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.

Disclosure: J. F. Merola, Biogen, 2, 5, 9; W. Wang, Biogen, 1, 3, 9; C. Wager, Biogen, 1, 3, 9; S. Hamann, Biogen, 1, 3, 9; X. Zhang, Biogen, 1, 3, 9; A. Thai, Biogen, 1, 3, 9; C. Roberts, Biogen, 1, 3, 9; C. Lam, Biogen, 2, 9; C. Musselli, Biogen, 1, 3, 9; G. Marsh, Biogen, 1, 3, 9; D. Rabah, Biogen, 1, 3, 9; C. Barbey, Biogen, 1, 3, 9; N. Franchimont, Biogen, 1, 3, 9; T. L. Reynolds, Biogen, 1, 3, 9.

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 9). 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 February 3, 2023.

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