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

Landegren, Nils ; Ishii, Norito ; Aranda-Guillen, Maribel ; Gunnarsson, Horður Ingi ; Sardh, Fabian ; Hallgren, Åsa ; Ståhle, Mona ; Hagforsen, Eva ; Bradley, Maria and Edqvist, Per Henrik D. , et al. (2021) In Proceedings of the National Academy of Sciences of the United States of America 118(51).
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%... (More)

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.

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organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Autoantibodies, Autoimmunity, Biomarkers, Paraneoplastic, Transglutaminase
in
Proceedings of the National Academy of Sciences of the United States of America
volume
118
issue
51
article number
e2100687118
publisher
National Academy of Sciences
external identifiers
  • pmid:34911754
  • scopus:85122558809
ISSN
0027-8424
DOI
10.1073/pnas.2100687118
language
English
LU publication?
yes
id
ce9c84e1-7584-4b3e-96d8-410beca18acd
date added to LUP
2022-03-10 12:38:03
date last changed
2024-06-13 11:25:42
@article{ce9c84e1-7584-4b3e-96d8-410beca18acd,
  abstract     = {{<p>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.</p>}},
  author       = {{Landegren, Nils and Ishii, Norito and Aranda-Guillen, Maribel and Gunnarsson, Horður Ingi and Sardh, Fabian and Hallgren, Åsa and Ståhle, Mona and Hagforsen, Eva and Bradley, Maria and Edqvist, Per Henrik D. and Ponten, Fredrik and Makitie, Outi and Eidsmo, Liv and Norlen, Lars and Achour, Adnane and Dahlbom, Ingrid and Korponay-Szabo, Ilma and Agardh, Daniel and Alimohammadi, Mohammad and Eriksson, Daniel and Hashimoto, Takashi and Kampe, Olle}},
  issn         = {{0027-8424}},
  keywords     = {{Autoantibodies; Autoimmunity; Biomarkers; Paraneoplastic; Transglutaminase}},
  language     = {{eng}},
  number       = {{51}},
  publisher    = {{National Academy of Sciences}},
  series       = {{Proceedings of the National Academy of Sciences of the United States of America}},
  title        = {{A gene-centric approach to biomarker discovery identifies transglutaminase 1 as an epidermal autoantigen}},
  url          = {{http://dx.doi.org/10.1073/pnas.2100687118}},
  doi          = {{10.1073/pnas.2100687118}},
  volume       = {{118}},
  year         = {{2021}},
}