rs8129030

This functional study integrates epigenomic datasets (ATAC-seq, Hi-C, ChIP-seq, RNA-seq) from fibroblast-like synoviocytes (FLS) to map the functional relevance of 101 fine-mapped rheumatoid arthritis GWAS associations. FLS regulatory elements account for 24% of RA heritability, and the study assigns putative target genes to RA risk loci, identifying TNFAIP3, IFNAR1, CDK6, RBPJ and others as disease-relevant genes. TNF stimulation reveals dynamic chromatin interactions and differential gene expression at RA-associated regulatory regions.

This functional study investigates disease-associated SNPs from non-coding genomic regions in juvenile idiopathic arthritis (JIA) by mapping enhancer-associated histone marks (H3K4me1 and H3K27ac) in human neutrophils and CD4+ T cells. The authors identified H3K4me1 and/or H3K27ac marks in 15 of 22 JIA risk regions in neutrophils and 18 of 22 regions in CD4+ T cells, and confirmed non-coding RNA transcripts at rs4705862 and rs6894249 loci in neutrophils, demonstrating that JIA-associated genetic risk resides largely within functional, non-coding regulatory elements.