Sjögren's disease & overlap diseases
Variants in the DDX6-CXCR5 autoimmune disease risk locus influence the regulatory network in immune cells and salivary gland
Authors' conclusion
Shared genetic susceptibly at the DDX6-CXCR5 locus in SjD and SLE likely alters common mechanisms of autoimmunity, including interferon signalling (DDX6), autophagy (TRAPPC4), and lymphocytic infiltration of disease-target tissues (CXCR5). Further, using multiomic data from patients with SjD, combined with bioinformatic and in vitro functional studies, can provide mechanistic insights into how genetic risk influences the biological pathways that drive complex autoimmunity.
Study context
- Population
- Shared sjögren's disease (SjD) and systemic lupus erythematosus (SLE) genetic risk at the DDX6-CXCR5 locus (11q23.3); primary human immune cells, salivary gland and kidney tissues and cell models
- Outcome
- Shared likely functional SNPs at the DDX6-CXCR5 locus
Methodological detailstransdisease meta-analyses, fine-mapping, bioinformatic analyses, electromobility shift, luciferase reporter and quantitative chromatin conformation capture assays, clustered regularly interspaced short palindromic repeat (CRISPR) gene regulation
- Transdisease meta-analyses
- Fine-mapping
- Bioinformatic analyses
- Electromobility shift, luciferase reporter and quantitative chromatin conformation capture assays
- CRISPR gene regulation
Main finding
As reported in the abstract
- Shared single nucleotide polymorphisms (SNPs) identified as likely functional in primary human immune cells, salivary gland and kidney tissues (rs57494551, rs4936443, rs4938572, rs7117261, rs4938573)
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Original publication
Variants in the DDX6-CXCR5 autoimmune disease risk locus influence the regulatory network in immune cells and salivary gland. Ann Rheum Dis. Published 30 May 2025. doi:10.
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