Fig. 1. Common genetic variation in progressive supranuclear palsy (PSP) overlaps with cell type-specific epigenomic annotations.

a Manhattan plot for PSP genome-wide association study (n = 2779 cases versus n = 5584 controls) identified six genome-wide significant (P < 5 × 10⁻⁸) loci indicated by the dotted line containing approximately 218 genes around a 2-Mb window from the lead SNP. b LD-score regression using cell type-specific regulatory elements (dotted line indicates p < 0.05) derived from ChIP-seq¹⁰ demonstrates a unique cell-specific profile in PSP when compared to Alzheimer’s disease (AD) and Parkinson’s disease (PD)^18,19. c Fine-mapping of the four amenable loci identified different numbers of causal SNPs and credible sets, some of which overlapped with cell type-specific regulatory elements and previously identified regulatory SNPs from an MPRA²². Abbreviations: Oligo, oligodendrocytes; MPRA, massively parallel reporter assay.