GWAS identifies genetic loci, lifestyle factors and circulating biomarkers that are risk factors for sarcoidosis

Shuai Yuan (), Jie Chen, Jiawei Geng, Sizheng Steven Zhao, James Yarmolinsky, Elizabeth V. Arkema, Sarah Abramowitz, Michael G. Levin, Kostas K. Tsilidis, Stephen Burgess, Scott M. Damrauer and Susanna C. Larsson
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Shuai Yuan: Karolinska Institutet
Jie Chen: Central South University
Jiawei Geng: Zhejiang University School of Medicine
Sizheng Steven Zhao: Manchester Academic Health Science Centre
James Yarmolinsky: Imperial College London
Elizabeth V. Arkema: Karolinska Institutet
Sarah Abramowitz: University of Pennsylvania Perelman School of Medicine
Michael G. Levin: Corporal Michael J. Crescenz VA Medical Center
Kostas K. Tsilidis: Imperial College London
Stephen Burgess: University of Cambridge
Scott M. Damrauer: University of Pennsylvania Perelman School of Medicine
Susanna C. Larsson: Karolinska Institutet

Nature Communications, 2025, vol. 16, issue 1, 1-11

Abstract: Abstract 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.

Date: 2025
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DOI: 10.1038/s41467-025-57829-z

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