A gene-centric approach to biomarker discovery identifies transglutaminase 1 as an epidermal autoantigen
Research output: Contribution to journal › Journal article › Research › peer-review
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.
Original language | English |
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Journal | Proceedings of the National Academy of Sciences of the United States of America |
Volume | 118 |
Issue number | 51 |
ISSN | 0027-8424 |
DOIs | |
Publication status | Published - 21 Dec 2021 |
Externally published | Yes |
Bibliographical note
Copyright © 2021 the Author(s). Published by PNAS.
- Adolescent, Adult, Aged, Aged, 80 and over, Autoantigens/blood, Biomarkers/blood, Case-Control Studies, Child, Female, Humans, Male, Middle Aged, Paraneoplastic Syndromes/blood, Pemphigus/blood, Transglutaminases/immunology, Young Adult
Research areas
ID: 312710881