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. Author manuscript; available in PMC: 2022 Jan 24.
Published in final edited form as: Acta Neuropathol. 2021 Nov 1;143(1):33–53. doi: 10.1007/s00401-021-02379-z

Fig. 1.

Fig. 1

Genome-wide association study (GWAS) in primary age-related tauopathy. a Quantitative trait GWAS was performed using normalized Braak neurofibrillary tangle stage with age, sex, principal components (PCs), and genotyping SNP array as covariates (n = 647). The threshold for genome-wide significance (p < 5 × 10−8) is indicated by the solid grey line; the suggestive line (p < 5 × 10−6) is indicated by the dotted line. b LocusZoom plot shows a strong signal with multiple SNPs in linkage disequilibrium on chromosome 4q28.2. The x axis is the base pair position, and the y axis is the – log10 of the p value for the association with Braak stage. The blue line represents the recombination rate. c Association between single-nucleotide polymorphism (SNP), rs56405341 and Braak tangle stage (adjusted for age and sex). Pairwise comparisons using Wilcoxon rank sum test, AA–AG p = 0.024, AA–GG p = 3.3 × 10−5, AG–GG p = 7.2 × 10−5