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. Author manuscript; available in PMC: 2023 Sep 28.
Published in final edited form as: Biol Psychiatry. 2023 Feb 15;94(6):466–478. doi: 10.1016/j.biopsych.2023.02.009

Figure 5. Regulatory architecture of rSNPs at P0 and P10, permutation analysis evaluating the number of detected SxG rSNPs, and the context-dependent landscape of MDD loci.

Figure 5.

(A) TFs with binding motif disruptions by ≥5 nominally significant (pemp < 0.05) rSNPs or SxG rSNPs, enriched relative to nonfunctional SNPs. (B) Enrichr analysis findings for rSNP-enriched TFs in P0 and P10. Color key is shared with panel G. (C-F) Distribution of significant (FDR < 0.2) SxG rSNPs in 1, 000 permutation analyses per condition (400 for P10); red lines: number of SxG rSNPs identified experimentally; overlaid p-values indicate the probability of observing as many SxG rSNPs by chance. Only conditions italicized in legend are shown in this panel. (G) Six exemplary MDD loci (tag SNPs), with bars representing the percentage of analyzed variants that were rSNPs or SxG rSNPs for each condition at pemp-derived FDR<0.2. Color key shared with panel B; columns are in the same order as the legend. *: all-female MDD GWAS locus (43); **: near-genome-wide significant loci for first-episode MDD in males over age 50 (42); ‡: collapsed results from LD partners of five tag SNPs, comprising two GWAS significant tags and several weaker association peaks covering a span of ~5Mb around the gene TCF4 (6).