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.
Highlights
Sarcoidosis and chronic beryllium disease (CBD) are phenocopies, the latter one has a clear trigger factor that is beryllium exposure
Beryllium is the known trigger for CBD that elicits a type IV immune reaction with CD4 + T-cell activation and proliferation (beryllium sensitization (BeS))
A single Single nucleotide polymorphism (SNP) in the Human leukocyte antigen (HLA)-DP represents a strong risk factor for disease development [3], but other genetic factors may contribute to beryllium sensitization and CBD
Summary
Analysis of single nucleotide polymorphisms in chronic beryllium disease Björn C.
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
