Fig. 5: Prioritized candidate genes at novel loci.

a Supporting evidence by candidate per GWAS locus. b Scheme of ligand-receptor and proximal components of IL-6 and IL-22 signaling pathway. Corresponding expression and protein QTL associations mapped to the lead AD GWAS variant risk allele are shown. This figure contains illustrations from BioRender. Oliva, M. (2025) [https://BioRender.com/d11f365]. c Genotype-phenotype association p-values of the IL6ST, IL22RA2, ITK and BATF locus. First panel illustrates ITK ENST00000522616 sQTL signal in T helper 2 cells (Th2), second panel illustrates BATF eQTL signal in CD8+ memory T-cells, third panel illustrates IL6ST eQTL signal in T follicular helper cells (Tfh), forth panel illustrates IL22RA2 pQTL signal in plasma. For all panels, bottom part illustrates GWAS signal for AD. Lead GWAS variant mapped to AD risk allele is typed and indicated by a triangle-shaped point, pointing upwards or downwards for positive or negative effect size, respectively. Linkage disequilibrium between loci is quantified by squared Pearson coefficient of correlation (r2). P-values correspond to nominal GWAS and QTL associations, derived from multiple regression two-sided t tests.