@article{55f40497ae6344a1b14cf120a2da07bc,
title = "Modular gene analysis reveals distinct molecular signatures for subsets of patients with cutaneous lupus erythematosus*",
abstract = "Background: Cutaneous lupus erythematosus (CLE) is a heterogeneous autoimmune disease with clinical sequelae such as itching, dyspigmentation and scarring. Objectives: We applied a previously described modular analysis approach to assess the molecular heterogeneity of patients with CLE. Methods: Whole-blood transcriptomes of RNA sequencing data from a racially and ethnically diverse group of patients with CLE (n = 62) were used to calculate gene co-expression module scores. An unsupervised cluster analysis and k-means clustering based on these module scores were then performed. We used Fisher{\textquoteright}s exact tests and Kruskal–Wallis tests to compare characteristics between patient clusters. Results: Six unique clusters of patients with CLE were identified from the cluster analysis. We observed that seven inflammation modules were elevated in two clusters of patients with CLE. Additionally, these clusters were characterized by interferon, neutrophil and cell-death signatures, suggesting that interferon-related proteins, neutrophils and cell-death processes could be driving the inflammatory response in these subgroups. Three different clusters had a predominant T-cell signature, which were supported by lymphocyte counts. Conclusions: Our data support a diverse molecular profile in CLE that further adds to the clinical variations of this skin disease, and may affect disease course and treatment selection. Future studies with a larger and diverse cohort of patients with CLE are warranted to confirm these findings.",
author = "Zhu, {J. L.} and Tran, {L. T.} and M. Smith and F. Zheng and L. Cai and James, {J. A.} and Guthridge, {J. M.} and Chong, {B. F.}",
note = "Funding Information: The research reported in this publication was supported by the National Institute of Arthritis and Musculoskeletal and Skin Diseases of the National Institutes of Health under award number K23AR061441 (B.F.C.), P30AR073750 (J.A.J., J.M.G.) and UM1AI44292 (J.A.J., J.M.G.). The content is solely the responsibility of the authors and does not necessarily represent the official views of the University of Texas Southwestern Medical Center at Dallas and its affiliated academic and healthcare centres, Oklahoma Medical Research Foundation and the National Institutes of Health. Funding sources Funding Information: sources The research reported in this publication was supported by the National Institute of Arthritis and Musculoskeletal and Skin Diseases of the National Institutes of Health under award number K23AR061441 (B.F.C.), P30AR073750 (J.A.J., J.M.G.) and UM1AI44292 (J.A.J., J.M.G.). The content is solely the responsibility of the authors and does not necessarily represent the official views of the University of Texas Southwestern Medical Center at Dallas and its affiliated academic and healthcare centres, Oklahoma Medical Research Foundation and the National Institutes of Health.The authors would like to acknowledge Rebecca Vasquez, Andrew Kim, Daniel Grabell, Noelle Teske, Tina Vinoya, Jack O?Brien, Elaine Kunzler, Stephanie Florez-Pollack, Danielle Lin, Jenny Raman and Justin Raman for recruiting patients. The authors would like to thank participants of the UTSW Cutaneous Lupus Erythematosus Registry for their contributions to lupus research. We also thank the OMRF Oklahoma Rheumatic Disease Research Cores Center Phenotyping Core personnel for molecular assays and autoantibody testing. Publisher Copyright: {\textcopyright} 2021 British Association of Dermatologists",
year = "2021",
month = sep,
doi = "10.1111/bjd.19800",
language = "English (US)",
volume = "185",
pages = "563--572",
journal = "British Journal of Dermatology",
issn = "0007-0963",
publisher = "Wiley-Blackwell",
number = "3",
}