Scientists map 28 genes that trigger sarcoidosis, opening path to new treatments
Researchers identified genetic and lifestyle factors driving sarcoidosis, a debilitating inflammatory disease affecting tens of thousands globally. The findings pinpoint specific immune pathways and proteins that could become drug targets, potentially transforming treatment options for a condition with limited therapies and significant healthcare costs.
Originaltitel: GWAS identifies genetic loci, lifestyle factors and circulating biomarkers that are risk factors for sarcoidosis
<p>Sarcoidosis is a complex inflammatory disease with a strong genetic component. Here, we perform a genome-wide association study in 9755 sarcoidosis cases to identify risk loci and map associated genes. We then use transcriptome-wide association studies and enrichment analyses to explore pathways involved in sarcoidosis and use Mendelian randomization to examine associations with modifiable factors and circulating biomarkers. We identify 28 genomic loci associated with sarcoidosis, with the C1orf141-IL23R locus showing the largest effect size. We observe gene expression patterns related to sarcoidosis in the spleen, whole blood, and lung, and highlight 75 tissue-specific genes through transcriptome-wide association studies. Furthermore, we use enrichment analysis to establish key roles for T cell activation, leukocyte adhesion, and cytokine production in sarcoidosis. Additionally, we find associations between sarcoidosis and genetically predicted body mass index, interleukin-23 receptor, and eight circulating proteins.</p>