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Phenotypes of organ involvement in sarcoidosis
JC. Schupp, S. Freitag-Wolf, E. Bargagli, V. Mihailović-Vučinić, P. Rottoli, A. Grubanovic, A. Müller, A. Jochens, L. Tittmann, J. Schnerch, C. Olivieri, A. Fischer, D. Jovanovic, S. Filipovic, J. Videnovic-Ivanovic, P. Bresser, R. Jonkers, K....
Language English Country England, Great Britain
Document type Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't
NLK
Free Medical Journals
from 1994 to 18 months ago
Open Access Digital Library
from 1988-01-01
- MeSH
- Acute Disease MeSH
- White People MeSH
- Abdomen MeSH
- Adult MeSH
- Phenotype * MeSH
- Genotype MeSH
- Skin Diseases physiopathology MeSH
- Skin physiopathology MeSH
- Middle Aged MeSH
- Humans MeSH
- Lymph Nodes physiopathology MeSH
- Joint Diseases physiopathology MeSH
- Eye physiopathology MeSH
- Eye Diseases physiopathology MeSH
- Lung physiopathology MeSH
- Lung Diseases physiopathology MeSH
- Sarcoidosis diagnosis physiopathology MeSH
- Aged MeSH
- Tertiary Healthcare MeSH
- Forced Expiratory Volume MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Multicenter Study MeSH
- Research Support, Non-U.S. Gov't MeSH
- Geographicals
- Europe MeSH
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.
Aintree University Hospital Liverpool UK
Dept of Pneumology University Hospital Leipzig Germany
Dept of Pneumology University Medical Centre Faculty of Medicine Freiburg Germany
Dept of Pneumonology Oncology and Allergology Medical University of Lublin Lublin Poland
Dept of Pulmonology Medical University of Gdansk Gdansk Poland
Evangelische Lungenklinik Berlin Germany
Hospital Berlin Havelhöhe Berlin Germany
Institute of Clinical Molecular Biology Christian Albrechts Universität Kiel Germany
Institute of Medical Informatics and Statistics Christian Albrechts Universität Kiel Germany
National Koranyi Institute Budapest Hungary
Oxford Sarcoidosis Service Oxford University Hospitals NHS Foundation Trust Oxford UK
Popgen Biobank and Institute of Epidemiology Christian Albrechts Universität Kiel Germany
Prague General Hospital Charles University Prague Czech Republic
Private Practice Neuruppin Germany
Pulmonology Dept Academic Medical Center Amsterdam Amsterdam The Netherlands
Pulmonology Unit Foundation IRCCS Policlinico San Matteo Pavia Italy
Service de Pneumologie Groupe Hospitalier Avicenne Jean Verdier René Muret Bobigny France
University College Dublin Dublin Ireland St Vincent's University Hospital Dublin Ireland
University Hospital Bonn Germany
University Hospital Bristol UK
University Hospital Giessen Germany
University Hospital Jordanovac Zagreb Croatia
University Hospital Leuven Belgium
University Hospital Lille France
University Hospital of Lung Diseases Clinical Centre of Serbia Belgrade Serbia
University Hospital Regensburg Germany
References provided by Crossref.org
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