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<p>Common genetic variants are associated with risk of lung and autoimmune diseases. However, we have a limited understanding of the pathological effects of these disease variants, specifically in tissue-resident immune cells at the frontier of infection and disease in the lung. To address this, we performed single-cell expression quantitative trait locus (eQTL) analysis across 29 distinct immune cell subsets isolated from lung tissue. Colocalization analysis of lung immune cell eQTLs with genome-wide association study (GWAS) signals from lung diseases, and infectious and autoimmune diseases, implicate disease-associated variants and their target genes functioning in a single or restricted group of cell types. Several genes, including <i>ZFP57</i>, showed significant colocalization between lung immune cell eQTLs and GWAS signals from multiple systemic and organ-restricted autoimmune diseases, highlighting shared genetic mechanisms underlying the risk of disease. Overall, our study shows that disease-associated variants from a wide range of autoimmune diseases impact gene expression in tissue-resident immune cell types (<a href="https://lung.dice-database.org">https://lung.dice-database.org</a>).</p>

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Tissue-resident immune cells drive genetic risk in autoimmune and lung diseases

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年8月3日

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  • Benjamin J. Schmiedel,
  • Cristian Gonzalez-Colin,
  • Vicente Fajardo-Rosas,
  • Job Rocha,
  • Hayley Simon,
  • Johannes Ottensmeier,
  • Ignacio E. Ramírez-Bernabé,
  • April Cano,
  • Angel De la Cruz Castillo,
  • Elizabeth Márquez-Gómez,
  • Brendan Ha,
  • Jason A. Greenbaum,
  • Lindsey Chudley,
  • Judith Cave,
  • Aiman Alzetani,
  • Edwin Woo,
  • Michael Shackcloth,
  • Serena J. Chee,
  • Vivek Chandra,
  • Mitchell Kronenberg,
  • Bjoern Peters,
  • Christian H. Ottensmeier,
  • Anusha-Preethi Ganesan,
  • Pandurangan Vijayanand

摘要

Common genetic variants are associated with risk of lung and autoimmune diseases. However, we have a limited understanding of the pathological effects of these disease variants, specifically in tissue-resident immune cells at the frontier of infection and disease in the lung. To address this, we performed single-cell expression quantitative trait locus (eQTL) analysis across 29 distinct immune cell subsets isolated from lung tissue. Colocalization analysis of lung immune cell eQTLs with genome-wide association study (GWAS) signals from lung diseases, and infectious and autoimmune diseases, implicate disease-associated variants and their target genes functioning in a single or restricted group of cell types. Several genes, including ZFP57, showed significant colocalization between lung immune cell eQTLs and GWAS signals from multiple systemic and organ-restricted autoimmune diseases, highlighting shared genetic mechanisms underlying the risk of disease. Overall, our study shows that disease-associated variants from a wide range of autoimmune diseases impact gene expression in tissue-resident immune cell types (https://lung.dice-database.org).