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Fig. 1 | Alzheimer's Research & Therapy

Fig. 1

From: Genome-wide association study for variants that modulate relationships between cerebrospinal fluid amyloid-beta 42, tau, and p-tau levels

Fig. 1

Each column plots (a and b) the relationship quantitative trait loci (rQTL) pattern and two gene-by-gene (G×G) interaction patterns (one for each trait from the original rQTL model) between the rQTL and a specific SNP. The trait for which the rQTL×SNP interaction was found significant in the screen (Table 2) is the top plot. The middle G×G plot was not found in the G×G screens but is displayed to show the differential two-locus genotypic mean patterns between the traits and how they relate to the rQTL pattern. rQTL are often the result of G×G patterns that are differential across traits. The x axis for all plots in a column refers to the genotypes of that specific rQTL. The bottom plot displays the rQTL pattern, which is the covariate-adjusted correlation between the two traits within each genotype of the rQTL along with error bars based on SE from bootstrapping. The G×G plots display the covariate-adjusted two-locus genotypic means for that particular trait (y axis) along with SE error bars based on bootstrapping. a The rs8027714 tau/Aβ42 rQTL interaction with rs57134082 for amyloid-beta (Aβ)42 (top plot) (Table 3) and under nominal for tau (middle; p = 0.088). Note the differential pattern between the two interaction plots although it is not clear how they relate to the rQTL pattern. b The tau/Aβ42 rQTL rs74025622 interactions with rs9817620 for tau (top plot) (Table 2) and Aβ42 (middle; p = 0.0013). Here, the differential G×G patterns for tau and Aβ42 directly result in changing the tau/Aβ42 correlations across the rQTL genotypes. For tau, the rs9817620 TC genotype goes from high to low across the rs74025622 genotypes (from AA to AG) while the opposite is true for Aβ42. This corresponds to a much more negative correlation between tau and Aβ42 in the rs74025622 AG genotype. rs9817620 is in the CHL1 gene (see Discussion)

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