Phenotypes of organ involvement in sarcoidosis

Jonas Christian Schupp, Sandra Freitag-Wolf, Elena Bargagli, Violeta Mihailović-Vučinić, Paola Rottoli, Aleksandar Grubanovic, Annegret Müller, Arne Jochens, Lukas Tittmann, Jasmin Schnerch, Carmela Olivieri, Annegret Fischer, Dragana Jovanovic, Snežana Filipovic, Jelica Videnovic-Ivanovic, Paul Bresser, René Jonkers, Kate O’Reilly, Ling Pei Ho, Karoline I. GaedePeter Zabel, Anna Dubaniewicz, Ben Marshall, Robert Kieszko, Janusz Milanowski, Andreas Günther, Anette Weihrich, Martin Petrek, Vitezslav Kolek, Michael P. Keane, Sarah O’Beirne, Seamas Donnelly, Sigridur Olina Haraldsdottir, Kristin B. Jorundsdottir, Ulrich Costabel, Francesco Bonella, Benoît Wallaert, Christian Grah, Tatjana Peroš-Golubičić, Mauritio Luisetti, Zamir Kadija, Stefan Pabst, Christian Grohé, János Strausz, Martina Vašáková, Martina Sterclova, Ann Millar, Jiří Homolka, Alena Slováková, Yvonne Kendrick, Anjali Crawshaw, Wim Wuyts, Lisa Spencer, Michael Pfeifer, Dominique Valeyre, Venerino Poletti, Hubertus Wirtz, Antje Prasse, Stefan Schreiber, Michael Krawczak, Joachim Müller-Quernheim

Research output: Contribution to journalArticle

Abstract

Sarcoidosis is a highly variable, systemic granulomatous disease of hitherto unknown aetiology. The GenPhenReSa (Genotype–Phenotype Relationship in Sarcoidosis) project represents a European multicentre study to investigate the influence of genotype on disease phenotypes in sarcoidosis. The baseline phenotype module of GenPhenReSa comprised 2163 Caucasian patients with sarcoidosis who were phenotyped at 31 study centres according to a standardised protocol. From this module, we found that patients with acute onset were mainly female, young and of Scadding type I or II. Female patients showed a significantly higher frequency of eye and skin involvement, and complained more of fatigue. Based on multidimensional correspondence analysis and subsequent cluster analysis, patients could be clearly stratified into five distinct, yet undescribed, subgroups according to predominant organ involvement: 1) abdominal organ involvement, 2) ocular–cardiac–cutaneous–central nervous system disease involvement, 3) musculoskeletal–cutaneous involvement, 4) pulmonary and intrathoracic lymph node involvement, and 5) extrapulmonary involvement. These five new clinical phenotypes will be useful to recruit homogenous cohorts in future biomedical studies.

Original languageEnglish
Article number700991
JournalEuropean Respiratory Journal
Volume51
Issue number1
DOIs
Publication statusPublished - Jan 1 2018

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine

Fingerprint Dive into the research topics of 'Phenotypes of organ involvement in sarcoidosis'. Together they form a unique fingerprint.

  • Cite this

    Schupp, J. C., Freitag-Wolf, S., Bargagli, E., Mihailović-Vučinić, V., Rottoli, P., Grubanovic, A., Müller, A., Jochens, A., Tittmann, L., Schnerch, J., Olivieri, C., Fischer, A., Jovanovic, D., Filipovic, S., Videnovic-Ivanovic, J., Bresser, P., Jonkers, R., O’Reilly, K., Ho, L. P., ... Müller-Quernheim, J. (2018). Phenotypes of organ involvement in sarcoidosis. European Respiratory Journal, 51(1), [700991]. https://doi.org/10.1183/13993003.00991-2017