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Identification, Replication, and Functional Fine-Mapping of Expression Quantitative Trait Loci in Primary Human Liver Tissue

Figure 1

Age and sex effect replication.

(A,D) Replication panel linear regression t-test p-values for genes with significant Sex (A) and Age (D) effects in the UC panel (<5% FDR) were binned (x-axis) and the number of genes per bin (y-axis) is displayed separately for the UW (red) and Merck (blue) replication sets. (B,E) The replication rate of sex (B) and age (E) associations is depicted as a function of UC p-value for UW (red), Merck (blue), either replication study (green), and for the n = 60 resampled data (purple). Note that, at more stringent significance thresholds, the replication rate increases but fewer genes are included. (C) Genes with significant sex associations are enriched on the X (black) and Y (grey) chromosomes. Hypergeometric test p-values (y-axis, log10 scaled) are plotted as a function of the discovery set effect significance threshold (x-axis, log10-scaled). (F) An example of a gene (TMEM22) whose expression level (y-axis) is associated with age (x-axis). Each point represents the expression level (y-axis), adjusted for surrogate variables, and age (x-axis) of an individual sample.

Figure 1