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

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.

Bibliographical data

Original languageEnglish
Article number107
ISSN1465-993X
DOIs
Publication statusPublished - 16.04.2021
PubMed 33863318