Role of Cytokines in Systemic Lupus Erythematosus: Recent Progress from GWAS and Sequencing

Figure 2

Linking pathways to disease: Crohn’s disease (from Wang et al. [5]). As an example of how biological pathways are involved in disease pathogenesis, the authors illustrate a manually compiled pathway centered on IL-12 and IL-23. For each gene, the most significant 𝑃 value among SNPs close to the gene (based on GWAS) was annotated. Only three genes at two loci (IL12B at 5q33 and IL23R-IL12RB2 at 1p31) showed genome-wide significant signals, but three further genes (JAK2, CCR6, and STAT3) in the pathway were confirmed as susceptibility candidates in replication studies. Six further genes in this pathway were reported as Crohn’s disease susceptibility genes by other association and functional studies.