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.
- 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
