Fig. 4.

17q21.31 H1 haplotype and progressive supranuclear palsy are both associated with increased 4R tau mRNA and KANSL1 mRNA isoform expression. Patient haplotype information was determined using the SNP tag at rs1800547. H1 homozygous individuals are shown in orange (n = 77 PSP, n = 44 controls), H1/H2 heterozygous in green (n = 7 PSP, n = 22 controls), and H2 homozygous in blue (n = 0 PSP, n = 4 controls). q values are FDR-adjusted p values and were used to determine significance between cases and controls for each isoform. For haplotype-associated isoform and pseudogene expression analysis, a one-way ANOVA was performed