Fig. 1: GWAS of clinical diagnosis and Aβ and the explanatory power of the identified loci. | Nature Communications

Fig. 1: GWAS of clinical diagnosis and Aβ and the explanatory power of the identified loci.

From: Whole-genome sequencing analyses suggest novel genetic factors associated with Alzheimer’s disease and a cumulative effects model for risk liability

Fig. 1

a Manhattan plot for single-variant association analysis of clinical diagnosis with a meta-analysis of Korean and Japanese cohorts. The genome-wide significance threshold is indicated by a black horizontal dashed line at p of 5 × 10−8, and the suggestive threshold is indicated by a gray line at p = 1 × 10−6. The nearest genes were annotated for signals suggestive of significance. b Manhattan plot for single-variant association analysis of Aβ using the Korean WGS cohort. c, d Manhattan plots for gene-based association analysis of clinical diagnosis (c) and Aβ levels (d). The Bonferroni-corrected significance threshold is indicated by a black horizontal dashed line at p = 2.9 × 10−6, and the suggestive threshold is indicated by a gray line at p = 1 × 10−5. Genes were annotated for signals reaching suggestive significance. Two-sided Firth logistic regression was performed using REGENIE, with no correction for multiple testing. GWAS, genome-wide association analysis; Aβ, amyloid beta; WGS, whole-genome sequencing.

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