A gene-centric approach to biomarker discovery identifies transglutaminase 1 as an epidermal autoantigen

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Landegren , N , Ishii , N , Aranda-Guillen , M , Gunnarsson , H I , Sardh , F , Hallgren , Å , Ståhle , M , Hagforsen , E , Bradley , M , Edqvist , P-H D , Ponten , F , Makitie , O , Eidsmo , L , Norlen , L , Achour , A , Dahlbom , I , Korponay-Szabo , I , Agardh , D , Alimohammadi , M , Eriksson , D , Hashimoto , T & Kämpe , O 2021 , ' A gene-centric approach to biomarker discovery identifies transglutaminase 1 as an epidermal autoantigen ' , Proceedings of the National Academy of Sciences of the United States of America , vol. 118 , no. 51 , e2100687118 . https://doi.org/10.1073/pnas.2100687118

Title: A gene-centric approach to biomarker discovery identifies transglutaminase 1 as an epidermal autoantigen
Author: Landegren, Nils; Ishii, Norito; Aranda-Guillen, Maribel; Gunnarsson, Horður Ingi; Sardh, Fabian; Hallgren, Åsa; Ståhle, Mona; Hagforsen, Eva; Bradley, Maria; Edqvist, Per-Henrik D.; Ponten, Fredrik; Makitie, Outi; Eidsmo, Liv; Norlen, Lars; Achour, Adnane; Dahlbom, Ingrid; Korponay-Szabo, Ilma; Agardh, Daniel; Alimohammadi, Mohammad; Eriksson, Daniel; Hashimoto, Takashi; Kämpe, Olle
Contributor organization: HUS Children and Adolescents
Clinicum
Lastentautien yksikkö
Children's Hospital
Department of Medical and Clinical Genetics
Date: 2021-12-21
Language: eng
Number of pages: 6
Belongs to series: Proceedings of the National Academy of Sciences of the United States of America
ISSN: 0027-8424
DOI: https://doi.org/10.1073/pnas.2100687118
URI: http://hdl.handle.net/10138/341378
Abstract: Autoantigen discovery is a critical challenge for the understanding and diagnosis of autoimmune diseases. While autoantibody markers in current clinical use have been identified through studies focused on individual disorders, we postulated that a reverse approach starting with a putative autoantigen to explore multiple disorders might hold promise. We here targeted the epidermal protein transglutaminase 1 (TGM1) as a member of a protein family prone to autoimmune attack. By screening sera from patients with various acquired skin disorders, we identified seropositive subjects with the blistering mucocutaneous disease paraneoplastic pemphigus. Validation in further subjects confirmed TGM1 autoantibodies as a 55% sensitive and 100% specific marker for paraneoplastic pemphigus. This gene-centric approach leverages the wealth of data available for human genes and may prove generally applicable for biomarker discovery in autoimmune diseases.
Description: Publisher Copyright: © 2021 National Academy of Sciences. All rights reserved.
Subject: 3121 General medicine, internal medicine and other clinical medicine
1184 Genetics, developmental biology, physiology
Peer reviewed: Yes
Rights: cc_by_nc_nd
Usage restriction: openAccess
Self-archived version: publishedVersion


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