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. 2021 Apr 16;22(1):107.
doi: 10.1186/s12931-021-01691-2.

Analysis of single nucleotide polymorphisms in chronic beryllium disease

Björn C Frye  1 , Karoline I Gaede  2   3 , Cesare Saltini  4 , Milton D Rossman  5 , Dimitri S Monos  5 , Ken D Rosenman  6 , Christine R Schuler  7 , Ainsley Weston  7 , Ralf Wegner  8 , Rainer Noth  9 , Gernot Zissel  1 , Stefan Schreiber  9 , Michael Nothnagel  10   11 , Joachim Müller-Quernheim  12
Affiliations

Analysis of single nucleotide polymorphisms in chronic beryllium disease

Björn C Frye et al. Respir Res. .

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.

Keywords: Annexin A11; BTNL2; Berylliosis chronic; Beryllium diesase; Genetic; Sarcoidosis.

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Conflict of interest statement

BCF received speaker and consultant fees by Actelion, Boehringer Ingelheim, Novartis and Roche outside the submitted work. BCF acts as a consultant to and is shareholder of Advita Lifescience GmbH. KIG indicates funding of the German Research Counsil (DFG) related to project. CS has nothing to disclose. MDR has nothing to disclose. DSM acts as a consultant to, receives royalities from and owns options of Omixon. KDR has nothing to disclose.CSR has nothing to disclose. AW has nothing to disclose. RW has nothing to disclose. RN has nothing to disclose. GZ has nothing to disclose. StSch has nothing to disclose. MN has nothing to disclose. JMQ reports personal fees from Novartis, personal fees from Roche, personal fees and other from Advita Lifescience GmbH, outside the submitted work

Figures

Fig. 1
Fig. 1
Sarcoidosis and chronic beryllium disease (CBD) share granuloma formation and clinical phenotype as common hallmarks. Genetic studies propose specific SNPs (e.g. in the BTNL2 and ANXA11 genes) contributing to disease development. Red—indicating enhanced susceptibility and green + indicating protection in sarcoidosis. In CBD, these SNPs influence disease initiation and progression differentially, which has not been studied so far in sarcoidosis. (APC: antigen presenting cells)
See this image and copyright information in PMC

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