Analysis of single nucleotide polymorphisms in chronic beryllium disease

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 sarcoidos...

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Autores principales: Frye, Björn C., Gaede, Karoline I., Saltini, Cesare, Rossman, Milton D., Monos, Dimitri S., Rosenman, Ken D., Schuler, Christine R., Weston, Ainsley, Wegner, Ralf, Noth, Rainer, Zissel, Gernot, Schreiber, Stefan, Nothnagel, Michael, Müller-Quernheim, Joachim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8051053/
https://www.ncbi.nlm.nih.gov/pubmed/33863318
http://dx.doi.org/10.1186/s12931-021-01691-2
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author Frye, Björn C.
Gaede, Karoline I.
Saltini, Cesare
Rossman, Milton D.
Monos, Dimitri S.
Rosenman, Ken D.
Schuler, Christine R.
Weston, Ainsley
Wegner, Ralf
Noth, Rainer
Zissel, Gernot
Schreiber, Stefan
Nothnagel, Michael
Müller-Quernheim, Joachim
author_facet Frye, Björn C.
Gaede, Karoline I.
Saltini, Cesare
Rossman, Milton D.
Monos, Dimitri S.
Rosenman, Ken D.
Schuler, Christine R.
Weston, Ainsley
Wegner, Ralf
Noth, Rainer
Zissel, Gernot
Schreiber, Stefan
Nothnagel, Michael
Müller-Quernheim, Joachim
author_sort Frye, Björn C.
collection PubMed
description 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.
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spelling pubmed-80510532021-04-19 Analysis of single nucleotide polymorphisms in chronic beryllium disease Frye, Björn C. Gaede, Karoline I. Saltini, Cesare Rossman, Milton D. Monos, Dimitri S. Rosenman, Ken D. Schuler, Christine R. Weston, Ainsley Wegner, Ralf Noth, Rainer Zissel, Gernot Schreiber, Stefan Nothnagel, Michael Müller-Quernheim, Joachim Respir Res Letter to the Editor 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. BioMed Central 2021-04-16 2021 /pmc/articles/PMC8051053/ /pubmed/33863318 http://dx.doi.org/10.1186/s12931-021-01691-2 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Letter to the Editor
Frye, Björn C.
Gaede, Karoline I.
Saltini, Cesare
Rossman, Milton D.
Monos, Dimitri S.
Rosenman, Ken D.
Schuler, Christine R.
Weston, Ainsley
Wegner, Ralf
Noth, Rainer
Zissel, Gernot
Schreiber, Stefan
Nothnagel, Michael
Müller-Quernheim, Joachim
Analysis of single nucleotide polymorphisms in chronic beryllium disease
title Analysis of single nucleotide polymorphisms in chronic beryllium disease
title_full Analysis of single nucleotide polymorphisms in chronic beryllium disease
title_fullStr Analysis of single nucleotide polymorphisms in chronic beryllium disease
title_full_unstemmed Analysis of single nucleotide polymorphisms in chronic beryllium disease
title_short Analysis of single nucleotide polymorphisms in chronic beryllium disease
title_sort analysis of single nucleotide polymorphisms in chronic beryllium disease
topic Letter to the Editor
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8051053/
https://www.ncbi.nlm.nih.gov/pubmed/33863318
http://dx.doi.org/10.1186/s12931-021-01691-2
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