Targeted genomic analysis reveals widespread autoimmune disease association with regulatory variants in the TNF superfamily cytokine signalling network.

TNFSF-related eQTLs are associated with a variety of autoimmune and autoinflammatory diseases Loci near 24 % of autosomal TNFSF-related genes have been associated with autoimmune and inflammatory diseases by GWAS (Additional file 3 , “Mapped Genes” column), resulting in highly significant enrichment of these gene loci with autoimmune diseases (Fisher’s exact test p = 1.4 × 10 −10 ).

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Some genes, such as TNFSF14 (LIGHT), exhibited strong subset-specific regulation, while others, such as its receptor TNFRSF14 (HVEM), met our significance threshold in only one subset but showed a trend toward association in other cell types.

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