Analysis of single nucleotide polymorphisms in chronic beryllium disease.

Berylliosis / genetics Beryllium / adverse effects Butyrophilins / genetics Chronic Disease DNA / genetics Female Humans Male Occupational Exposure / adverse effects Polymorphism, Single Nucleotide
Annexin A11 BTNL2 Berylliosis chronic Beryllium diesase Genetic Sarcoidosis

Journal

Respiratory research
ISSN: 1465-993X
Titre abrégé: Respir Res
Pays: England
ID NLM: 101090633

Informations de publication

Date de publication:
16 Apr 2021
Historique:
received: 14 12 2020
accepted: 22 03 2021
entrez: 17 4 2021
pubmed: 18 4 2021
medline: 20 11 2021
Statut: epublish

Résumé

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.

Identifiants

DOI: 10.1186/s12931-021-01691-2 PMID: 33863318 PMC: PMC8051053
pubmed: 33863318
doi: 10.1186/s12931-021-01691-2
pii: 10.1186/s12931-021-01691-2
pmc: PMC8051053
doi:

Substances chimiques

BTNL2 protein, human 0
Butyrophilins 0
DNA 9007-49-2
Beryllium OW5102UV6N

Types de publication

Letter

Langues

eng

Sous-ensembles de citation

IM

Pagination

107

Subventions

Organisme : Deutscher Forschungsgemeinschaft / German Research Foundation
ID : Mu692/7-1

Références

Semin Respir Crit Care Med. 2014 Jun;35(3):316-29
pubmed: 25007084
Curr Opin Pulm Med. 2016 Sep;22(5):476-83
pubmed: 27379969
Tissue Antigens. 2007 Dec;70(6):480-6
pubmed: 17927685
Semin Respir Crit Care Med. 2014 Jun;35(3):296-306
pubmed: 25007082
Nat Genet. 2008 Sep;40(9):1103-6
pubmed: 19165924
J Immunol. 2016 Jan 1;196(1):22-7
pubmed: 26685315
Am J Respir Crit Care Med. 2014 Nov 15;190(10):e34-59
pubmed: 25398119
Sarcoidosis Vasc Diffuse Lung Dis. 2016 Aug 01;33(2):102-11
pubmed: 27537711

Auteurs

Björn C Frye (BC)

Department of Pneumology, Faculty of Medicine, Medical Center-University of Freiburg, University of Freiburg, Killianstrasse 5, 79106, Freiburg, Germany.
ORCID: 0000-0003-3520-1868

Karoline I Gaede (KI)

BioMaterial Bank Nord, Research Center Borstel, Leibniz Lung Center, 23845 Borstel, Parkallee 35, Germany.
Airway Research Center North, German Center for Lung Research (DZL), Wöhrendamm 80, 22927, Großhansdorf, Germany.

Cesare Saltini (C)

Department of Medicine, University of Florida, 1600 Archer Rd, Gainesville, 32610, FL, USA.

Milton D Rossman (MD)

Pulmonary, Allergy, and Critical Care Division, University of Pennsylvania Medical Center, Philadelphia, USA.

Dimitri S Monos (DS)

Pulmonary, Allergy, and Critical Care Division, University of Pennsylvania Medical Center, Philadelphia, USA.

Ken D Rosenman (KD)

Division of Occupational and Environmental Medicine, Department of Medicine, Michigan State University, East Lansing, MI, USA.

Christine R Schuler (CR)

Centers for Disease Control and Prevention, National Institute for Occupational Safety and Health, Morgantown, WV, USA.

Ainsley Weston (A)

Centers for Disease Control and Prevention, National Institute for Occupational Safety and Health, Morgantown, WV, USA.

Ralf Wegner (R)

Institute for Occupational and Maritime Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Rainer Noth (R)

Institute for Clinical Molecular Biology, Christian-Albrechts University, Kiel, Germany.

Gernot Zissel (G)

Department of Pneumology, Faculty of Medicine, Medical Center-University of Freiburg, University of Freiburg, Killianstrasse 5, 79106, Freiburg, Germany.

Stefan Schreiber (S)

Institute for Clinical Molecular Biology, Christian-Albrechts University, Kiel, Germany.

Michael Nothnagel (M)

Department of Statistical Genetics and Bioinformatics, Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
University Hospital Cologne, Cologne, Germany.

Joachim Müller-Quernheim (J)

Department of Pneumology, Faculty of Medicine, Medical Center-University of Freiburg, University of Freiburg, Killianstrasse 5, 79106, Freiburg, Germany. joachim.mueller-quernheim@uniklinik-freiburg.de.

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Classifications MeSH

questionsmedicales.fr › Maladies professionnelles › Pneumoconiose › Bérylliose › Analysis of single nucleotide polymorphisms in...
questionsmedicales.fr › Produits chimiques inorganiques › Métaux › Métaux légers › Béryllium › Analysis of single nucleotide polymorphisms in...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Glycoprotéines membranaires › Butyrophilines › Analysis of single nucleotide polymorphisms in...
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Caractéristiques de la maladie › Maladie chronique › Analysis of single nucleotide polymorphisms in...
questionsmedicales.fr › Acides nucléiques, nucléotides et nucléosides › Acides nucléiques › ADN › Analysis of single nucleotide polymorphisms in...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Analysis of single nucleotide polymorphisms in...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Pollution de l'environnement › Exposition environnementale › Exposition professionnelle › Analysis of single nucleotide polymorphisms in...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Polymorphisme de nucléotide simple › Analysis of single nucleotide polymorphisms in...