1. Phenotypes of organ involvement in sarcoidosis.
- Author
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Schupp JC, 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 LP, Gaede KI, Zabel P, Dubaniewicz A, Marshall B, Kieszko R, Milanowski J, Günther A, Weihrich A, Petrek M, Kolek V, Keane MP, O'Beirne S, Donnelly S, Haraldsdottir SO, Jorundsdottir KB, Costabel U, Bonella F, Wallaert B, Grah C, Peroš-Golubičić T, Luisetti M, Kadija Z, Pabst S, Grohé C, Strausz J, Vašáková M, Sterclova M, Millar A, Homolka J, Slováková A, Kendrick Y, Crawshaw A, Wuyts W, Spencer L, Pfeifer M, Valeyre D, Poletti V, Wirtz H, Prasse A, Schreiber S, Krawczak M, and Müller-Quernheim J
- Subjects
- Abdomen, Acute Disease, Adult, Aged, Europe, Eye physiopathology, Eye Diseases physiopathology, Female, Forced Expiratory Volume, Genotype, Humans, Joint Diseases physiopathology, Lung physiopathology, Lung Diseases physiopathology, Lymph Nodes physiopathology, Male, Middle Aged, Skin physiopathology, Skin Diseases physiopathology, Tertiary Healthcare, White People, Phenotype, Sarcoidosis diagnosis, Sarcoidosis physiopathology
- 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., Competing Interests: Conflict of interest: Disclosures can be found alongside this article at erj.ersjournals.com, (Copyright ©ERS 2018.)
- Published
- 2018
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