Phenotypes of organ involvement in sarcoidosis
Jonas Schupp, Sandra Freitag-Wolf, Elena Bargagli, Violeta Mihailovic-Vucinic, Paola Rottoli, Aleksandar Grubanovic, Annegret Muller, Arne Jochens, Lukas Tittmann, Jasmin Schnerch, Carmela Olivieri, Annegret Fischer, Dragana Jovanovic, Snezana Filipovic, Jelica Videnovic-Ivanovic, Paul Bresser, Rene Jonkers, Kate O'Reilly, Ling-Pei Ho, Karoline Gaede, Peter Zabel, Anna Dubaniewicz, Ben Marshall, Robert Kieszko, Janusz Milanowski, Andreas Gunther, Anette Weihrich, Martin Petrek, Vitezslav Kolek, Michael Keane, Sarah O'Beirne, Seamas Donnelly, Sigridur Haraldsdottir, Kristin Jorundsdottir, Ulrich Costabel, Francesco Bonella, Benoit Wallaert, Christian Grah, Tatjana Peros-Golubicic, Mauritio Luisetti, Zamir Kadija, Stefan Pabst, Christian Grohe, Janos Strausz, Martina Vasakova, Martina Sterclova, Ann Millar, Jiri Homolka, Alena Slovakova, Yvonne Kendrick, Anjali Crawshaw, Wim Wuyts, Lisa Spencer, Michael Pfeifer, Dominique Valeyre, Venerino Poletti, Hubertus Wirtz, Antje Prasse, Stefan Schreiber, Michael Krawczak, Joachim Muller-Quernheim
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.