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Genetic and geographic influence on phenotypic variation in European sarcoidosis patients
S. Freitag-Wolf, JC. Schupp, BC. Frye, A. Fischer, R. Anwar, R. Kieszko, V. Mihailović-Vučinić, J. Milanowski, D. Jovanovic, G. Zissel, E. Bargagli, P. Rottoli, D. Bumbacea, R. Jonkers, LP. Ho, KI. Gaede, A. Dubaniewicz, BG. Marshall, A. Günther,...
Status neindexováno Jazyk angličtina Země Švýcarsko
Typ dokumentu časopisecké články
NLK
Directory of Open Access Journals
od 2014
Free Medical Journals
od 2014
PubMed Central
od 2014
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- Publikační typ
- časopisecké články MeSH
INTRODUCTION: Sarcoidosis is a highly variable disease in terms of organ involvement, type of onset and course. Associations of genetic polymorphisms with sarcoidosis phenotypes have been observed and suggest genetic signatures. METHODS: After obtaining a positive vote of the competent ethics committee we genotyped 1909 patients of the deeply phenotyped Genetic-Phenotype Relationship in Sarcoidosis (GenPhenReSa) cohort of 31 European centers in 12 countries with 116 potentially disease-relevant single-nucleotide polymorphisms (SNPs). Using a meta-analysis, we investigated the association of relevant phenotypes (acute vs. sub-acute onset, phenotypes of organ involvement, specific organ involvements, and specific symptoms) with genetic markers. Subgroups were built on the basis of geographical, clinical and hospital provision considerations. RESULTS: In the meta-analysis of the full cohort, there was no significant genetic association with any considered phenotype after correcting for multiple testing. In the largest sub-cohort (Serbia), we confirmed the known association of acute onset with TNF and reported a new association of acute onset an HLA polymorphism. Multi-locus models with sets of three SNPs in different genes showed strong associations with the acute onset phenotype in Serbia and Lublin (Poland) demonstrating potential region-specific genetic links with clinical features, including recently described phenotypes of organ involvement. DISCUSSION: The observed associations between genetic variants and sarcoidosis phenotypes in subgroups suggest that gene-environment-interactions may influence the clinical phenotype. In addition, we show that two different sets of genetic variants are permissive for the same phenotype of acute disease only in two geographic subcohorts pointing to interactions of genetic signatures with different local environmental factors. Our results represent an important step towards understanding the genetic architecture of sarcoidosis.
Biomedical Research in End Stage and Obstructive Lung Disease Hannover Germany
Department of Internal Medicine 1 University Hospital Schleswig Holstein Kiel Germany
Department of Pneumology and Intensive Care University Hospital Giessen Germany
Department of Pneumology Faculty of Medicine University Medical Centre Freiburg Germany
Department of Pneumology University Hospital Belgrade Serbia
Department of Pneumology University Hospital Bonn Germany
Department of Pneumology University Hospital Leipzig Leipzig Germany
Department of Pneumology University Hospital Regensburg Regensburg Germany
Department of Pneumonology Oncology and Allergology Medical University of Lublin Lublin Poland
Department of Pulmonology Medical University of Gdansk Gdansk Poland
Department of Respiratory Medicine University Hospital Southampton United Kingdom
Evangelische Lungenklinik Berlin Berlin Germany
Faculty of Medicine and Dentistry Palacký University and University Hospital Olomouc Olomouc Czechia
Foundation IRCCS Policlinico San Matteo Pulmonology Unit Pavia Italy
Groupe Hospitalier Avicenne Jean Verdier René Muret Service de Pneumologie Bobigny France
Hospital Berlin Havelhöhe Berlin Germany
Institute of Clinical Molecular Biology Kiel University Kiel Germany
Institute of Medical Informatics and Statistics Kiel University Kiel Germany
Laboratory of Respiratory Diseases and Thoracic Surgery University Hospital Leuven Belgium
Landspitali University Hospital Reykjavik Iceland
Medical Hospital Research Center Borstel Borstel Germany
National Koranyi Institute Budapest Hungary
Prague General Hospital Charles University Prague Czechia
Pulmonary Department University Hospital Bristol United Kingdom
Pulmonary Department University Hospital Jordanovac Zagreb Croatia
Pulmonology Department Academic Medical Center Amsterdam Amsterdam Netherlands
Respiratory Diseases and Lung Transplant Unit University Hospital Siena Italy
Thomayer Hospital and 1st Faculty of Medicine Charles University Praha Czechia
Citace poskytuje Crossref.org
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