Sarcoidosis shares susceptibility loci with autoimmune disorders and cancers
<bold>Background:</bold> Sarcoidosis, an inflammatory disorder manifesting as granuloma formations in multiple organs, has shown potential associations with autoimmune disorders and cancers. <bold>Aims and objectives:</bold> 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. <bold>Methods:</bold> 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. <bold>Results:</bold> 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. <bold>Conclusion:</bold> 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.
Authors
- Susanna Kullberg (ORCID: https://orcid.org/0000-0003-2844-4773)
- Leonid Padyukov (ORCID: https://orcid.org/0000-0003-2950-5670)
- Natalia V. Rivera (ORCID: https://orcid.org/0000-0002-1298-1243)
- Olga D. Chuquimia
- Karina Patasova (ORCID: https://orcid.org/0000-0002-6568-4373)
Institutions
- Karolinska University Hospital (SE)
Publication Details
- Published
- 2024-09-14
- DOI
- https://doi.org/10.1183/13993003.congress-2024.pa2490
- Citations
- 2
- Primary Topic
- Sarcoidosis and Beryllium Toxicity Research
- Type
- article
- Field-Weighted Citation Impact
- 0.65