ERS Respiratory Channel

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Abstract

Background:

Sarcoidosis, an inflammatory disorder manifesting as granuloma formations in multiple organs, has shown potential associations with autoimmune disorders and cancers.

Aims and objectives:

Our study sought to assess genetic overlap between sarcoidosis subtypes (Lofgren?s syndrome ? LS and non-Lofgren?s syndrome ? non-LS) and autoimmune diseases and cancers.

Methods:

Genetic correlations between sarcoidosis and autoimmune diseases and cancer were investigated using LAVA and LDSC software. Detailed information on GWAS summary statistics and analysis workflow is provided in Figure 1.

Results:

Marked local bivariate genetic correlations were observed between LS and 37 traits, including 18 cancers and 19 autoimmune disorders, across 59 loci, as well as, non-LS and 27 traits, specifically 12 malignancies and 15 autoimmune diseases, across 36 independent genomic regions (Figure 2). Notably, one of the strongest genetic correlations identified was between sarcoidosis and luminal B-like breast cancer. No significant global genetic correlations were found.

Conclusion:

These findings highlight the intricate genetic landscape of sarcoidosis and its potential associations with autoimmune diseases and malignancies that should be explored in future research.

Abstract

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