Analysis of single nucleotide polymorphisms in chronic beryllium disease

Autor: 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
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: Respiratory Research, Vol 22, Iss 1, Pp 1-5 (2021)
Druh dokumentu: article
ISSN: 1465-993X
DOI: 10.1186/s12931-021-01691-2
Popis: 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.
Databáze: Directory of Open Access Journals
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