Analysis of single nucleotide polymorphisms in chronic beryllium disease

Björn C. Frye; Karoline I. Gaede; Cesare Saltini; Milton D. Rossman; Dimitri S. Monos; Ken D. Rosenman; Christine R. Schuler; Ainsley Weston; Ralf Wegner; Rainer Noth; Gernot Zissel; Stefan Schreiber; Michael Nothnagel; Joachim Müller-Quernheim

doi:10.1186/s12931-021-01691-2

Respiratory Research (Apr 2021)

Analysis of single nucleotide polymorphisms in chronic beryllium disease

Björn C. Frye,
Karoline I. Gaede,
Cesare Saltini,
Milton D. Rossman,
Dimitri S. Monos,
Ken D. Rosenman,
Christine R. Schuler,
Ainsley Weston,
Ralf Wegner,
Rainer Noth,
Gernot Zissel,
Stefan Schreiber,
Michael Nothnagel,
Joachim Müller-Quernheim

Affiliations

Björn C. Frye: Department of Pneumology, Faculty of Medicine, Medical Center-University of Freiburg, University of Freiburg
Karoline I. Gaede: BioMaterial Bank Nord, Research Center Borstel, Leibniz Lung Center
Cesare Saltini: Department of Medicine, University of Florida
Milton D. Rossman: Pulmonary, Allergy, and Critical Care Division, University of Pennsylvania Medical Center
Dimitri S. Monos: Pulmonary, Allergy, and Critical Care Division, University of Pennsylvania Medical Center
Ken D. Rosenman: Division of Occupational and Environmental Medicine, Department of Medicine, Michigan State University
Christine R. Schuler: Centers for Disease Control and Prevention, National Institute for Occupational Safety and Health
Ainsley Weston: Centers for Disease Control and Prevention, National Institute for Occupational Safety and Health
Ralf Wegner: Institute for Occupational and Maritime Medicine, University Medical Center Hamburg-Eppendorf
Rainer Noth: Institute for Clinical Molecular Biology, Christian-Albrechts University
Gernot Zissel: Department of Pneumology, Faculty of Medicine, Medical Center-University of Freiburg, University of Freiburg
Stefan Schreiber: Institute for Clinical Molecular Biology, Christian-Albrechts University
Michael Nothnagel: Department of Statistical Genetics and Bioinformatics, Cologne Center for Genomics (CCG), University of Cologne
Joachim Müller-Quernheim: Department of Pneumology, Faculty of Medicine, Medical Center-University of Freiburg, University of Freiburg

DOI: https://doi.org/10.1186/s12931-021-01691-2
Journal volume & issue: Vol. 22, no. 1
pp. 1 – 5

Abstract

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Abstract Sarcoidosis and chronic beryllium disease (CBD) are phenocopies, however the latter one has a clear trigger factor that is beryllium exposure. This study analyses single nucleotide polymorphisms (SNPs) in a large cohort for beryllium-exposed persons. SNPs were chosen for their relevance in sarcoidosis. Even though one of largest cohorts of beryllium-exposed persons was analysed, no statistically relevant association between any SNP and CBD could be verified. Notably, some SNPs exhibit inverse OR for beryllium sensitization and CBD with nominally statistical significance, which allows hypothesizing about pathophysiological role of genes for the disease triggering and development.

Published in Respiratory Research

ISSN: 1465-9921 (Print); 1465-993X (Online)
Publisher: BMC
Country of publisher: United Kingdom
LCC subjects: Medicine: Internal medicine: Specialties of internal medicine: Diseases of the respiratory system
Website: https://respiratory-research.biomedcentral.com/

About the journal

Abstract

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