Fig. 2
Disease heritability analysis of JIA. A–C LD score regression in specifically expressed genes (LDSC-SEG) analysis applied to JIA GWAS data using epigenetic markers from blood cell types. A The enrichment results of LDSC-SEG analysis using active promoter or gene markers. B The enrichment results of LDSC-SEG analysis using active enhancer markers. The black dotted line represents a significant threshold based on the Bonferroni-corrected P < 1.16 × 10−04 (0.05/431). C The enrichment results of LDSC-SEG analysis using ATAC-seq data. The black dotted line represents a significant threshold based on the Bonferroni-corrected P < 3.85 × 10−03 (0.05/13). D,E Estimation of the proportion of heritability mediated by the gene expression levels (\({h}_{med}^{2}/{h}_{g}^{2}\)) using mediated expression score regression (MESC) for JIA, AIDALL, and AIDSURE. D The MESC results of all tissues (expression scores from meta-analyses across all 48 GTEx tissues), connective tissues (expression scores from meta-analyses using 12 connective tissues), and whole blood tissue from GTEx v8. E The MESC results from whole blood tissue from eQTLGen. Error bars indicate jackknife standard errors