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 Gaede; Peter 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

doi:10.1183/13993003.00991-2017

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 journal › Article (Academic Journal) › peer-review

174 Citations (Scopus)

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 language	English
Journal	European Respiratory Journal
Volume	51
Issue number	1
Early online date	25 Jan 2018
DOIs	https://doi.org/10.1183/13993003.00991-2017
Publication status	E-pub ahead of print - 25 Jan 2018

Keywords

Journal Article

Access to Document

10.1183/13993003.00991-2017

Handle.net

Persistent link

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). Advance online publication. https://doi.org/10.1183/13993003.00991-2017

@article{117053483f3041318ac89154b4998ee1,

title = "Phenotypes of organ involvement in sarcoidosis",

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.",

keywords = "Journal Article",

author = "Schupp, {Jonas Christian} and Sandra Freitag-Wolf and Elena Bargagli and Violeta Mihailovi{\'c}-Vu{\v c}ini{\'c} and Paola Rottoli and Aleksandar Grubanovic and Annegret M{\"u}ller and Arne Jochens and Lukas Tittmann and Jasmin Schnerch and Carmela Olivieri and Annegret Fischer and Dragana Jovanovic and Sne{\v z}ana Filipovic and Jelica Videnovic-Ivanovic and Paul Bresser and Ren{\'e} Jonkers and Kate O'Reilly and Ling-Pei Ho and Gaede, {Karoline I} and Peter Zabel and Anna Dubaniewicz and Ben Marshall and Robert Kieszko and Janusz Milanowski and Andreas G{\"u}nther and Anette Weihrich and Martin Petrek and Vitezslav Kolek and Keane, {Michael P} and Sarah O'Beirne and Seamas Donnelly and Haraldsdottir, {Sigridur Olina} and Jorundsdottir, {Kristin B} and Ulrich Costabel and Francesco Bonella and Beno{\^i}t Wallaert and Christian Grah and Tatjana Pero{\v s}-Golubi{\v c}i{\'c} and Mauritio Luisetti and Zamir Kadija and Stefan Pabst and Christian Groh{\'e} and J{\'a}nos Strausz and Martina Va{\v s}{\'a}kov{\'a} and Martina Sterclova and Ann Millar and Ji{\v r}{\'i} Homolka and Alena Slov{\'a}kov{\'a} and Yvonne Kendrick and Anjali Crawshaw and Wim Wuyts and Lisa Spencer and Michael Pfeifer and Dominique Valeyre and Venerino Poletti and Hubertus Wirtz and Antje Prasse and Stefan Schreiber and Michael Krawczak and Joachim M{\"u}ller-Quernheim",

note = "Copyright {\textcopyright}ERS 2018.",

year = "2018",

month = jan,

day = "25",

doi = "10.1183/13993003.00991-2017",

language = "English",

volume = "51",

journal = "European Respiratory Journal",

issn = "0903-1936",

publisher = "European Respiratory Society",

number = "1",

}

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, L-P, 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 & Müller-Quernheim, J 2018, 'Phenotypes of organ involvement in sarcoidosis', European Respiratory Journal, vol. 51, no. 1. https://doi.org/10.1183/13993003.00991-2017

TY - JOUR

T1 - Phenotypes of organ involvement in sarcoidosis

AU - Schupp, Jonas Christian

AU - Freitag-Wolf, Sandra

AU - Bargagli, Elena

AU - Mihailović-Vučinić, Violeta

AU - Rottoli, Paola

AU - Grubanovic, Aleksandar

AU - Müller, Annegret

AU - Jochens, Arne

AU - Tittmann, Lukas

AU - Schnerch, Jasmin

AU - Olivieri, Carmela

AU - Fischer, Annegret

AU - Jovanovic, Dragana

AU - Filipovic, Snežana

AU - Videnovic-Ivanovic, Jelica

AU - Bresser, Paul

AU - Jonkers, René

AU - O'Reilly, Kate

AU - Ho, Ling-Pei

AU - Gaede, Karoline I

AU - Zabel, Peter

AU - Dubaniewicz, Anna

AU - Marshall, Ben

AU - Kieszko, Robert

AU - Milanowski, Janusz

AU - Günther, Andreas

AU - Weihrich, Anette

AU - Petrek, Martin

AU - Kolek, Vitezslav

AU - Keane, Michael P

AU - O'Beirne, Sarah

AU - Donnelly, Seamas

AU - Haraldsdottir, Sigridur Olina

AU - Jorundsdottir, Kristin B

AU - Costabel, Ulrich

AU - Bonella, Francesco

AU - Wallaert, Benoît

AU - Grah, Christian

AU - Peroš-Golubičić, Tatjana

AU - Luisetti, Mauritio

AU - Kadija, Zamir

AU - Pabst, Stefan

AU - Grohé, Christian

AU - Strausz, János

AU - Vašáková, Martina

AU - Sterclova, Martina

AU - Millar, Ann

AU - Homolka, Jiří

AU - Slováková, Alena

AU - Kendrick, Yvonne

AU - Crawshaw, Anjali

AU - Wuyts, Wim

AU - Spencer, Lisa

AU - Pfeifer, Michael

AU - Valeyre, Dominique

AU - Poletti, Venerino

AU - Wirtz, Hubertus

AU - Prasse, Antje

AU - Schreiber, Stefan

AU - Krawczak, Michael

AU - Müller-Quernheim, Joachim

PY - 2018/1/25

Y1 - 2018/1/25

N2 - 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.

AB - 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.

KW - Journal Article

U2 - 10.1183/13993003.00991-2017

DO - 10.1183/13993003.00991-2017

M3 - Article (Academic Journal)

C2 - 29371378

SN - 0903-1936

VL - 51

JO - European Respiratory Journal

JF - European Respiratory Journal

IS - 1

ER -

Phenotypes of organ involvement in sarcoidosis

Abstract

Keywords

Access to Document

Handle.net

Fingerprint

Cite this