Fig. 2: Global enrichment in 80 panel genes under strong constraint (pLI > 0.9). | Nature Genetics

Fig. 2: Global enrichment in 80 panel genes under strong constraint (pLI > 0.9).

From: Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations

Fig. 2: Global enrichment in 80 panel genes under strong constraint (pLI > 0.9).

a, Case–control enrichment of rare (minor allele count ≤ 5) protein-truncating, missense and synonymous variants in all ancestries combined. The PGC3SEQ results were derived from 11,580 individuals with SCZ and 10,555 controls and are shown in red/orange. We conducted the same analysis in the SCHEMA samples (shown in gray; 19,108 cases and 18,001 controls) that we had access to for comparison. b, Ancestry-stratified rare variant (MAF < 0.1%) enrichment in the meta-analysis of PGC3SEQ and SCHEMA (29,381 cases and 27,942 controls). Three groups of variants were analyzed: PTV + MPC > 3 missense variants (combined to increase the power); MPC = 2–3 missense variants; and synonymous variants. The data are presented as point estimates of enrichment ORs (dots) and 95% confidence intervals (bars). Two-sided P values were calculated using Firth logistic regression, controlling for five ancestry principal components and either the rare synonymous variant count (for PTV and missense variants) or the rare nonsynonymous variant count (for synonymous variants), to control for potential unknown technical biases.

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