Fig. 3: Joint-SNP effects on cortical expression. | Translational Psychiatry

Fig. 3: Joint-SNP effects on cortical expression.

From: Exon-variant interplay and multi-modal evidence identify endocrine dysregulation in severe psychiatric disorders impacting excitatory neurons

Fig. 3

a Bar plot displaying the number of significant exon-level expression-polygenic risk score associations, also known as the exon expression quantitative trait score (exon eQT-Score). The y-axis represents the counts of exon eQT-Score genes, and the x-axis indicates the corresponding GWAS used in the eQT-Score calculation. b Forest plot illustrating the effect size of exon-level eQTL genes and exon eQT-Score genes. The y-axis shows the median beta or t-statistic and the x-axis displays the GWAS used in the eQT-Score calculation. Exon eQT-Score genes exhibited a larger effect size (median absolute schizophrenia t-stats = 2.55, range from −4.53–4.32, median absolute MDD t-stats = 2.46, range from −4.39–5.2, median absolute BD t-stats = 2.63, range from −4.81–4.89) compared to single-exon-level eQTL genes (median absolute beta = −0.1, range from −3.77–2.48, p-value Wilcoxon test < 2.2 × 10−16). c Venn diagram showing the overlap between exon eQTL genes (gray), the joint BD, MDD and SCZ GWAS exon eQT-Score genes (purple) and differentially expressed exon-level genes (blue). BD bipolar disorder, MDD major depressive disorder, SCZ schizophrenia, CDG cross disorder, T2D type 2 diabetes.

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