Fig. 5: Shared and distinct genetic architectures between brainstem substructures.

a The ideogram displays shared (sphere: shared by three substructures; triangle: shared by two substructures) and distinct (diamond) loci (two-sided P < 5.56 × 10⁻⁹, Bonferroni corrected, linear regression model for single-ancestry GWAS and fixed-effect model for cross-ancestry GWAS) among the medulla (red), pons (purple), and midbrain (blue) volumes. b The radar chart shows an example of a locus with lead variant rs7523102, which is shared by all three substructures, along with three examples of substructure-specific loci: rs4888145 for the medulla; rs637990 for the pons; and rs1000371 for the midbrain. The colors represent different brainstem substructures (medulla: red; pons: purple; midbrain: blue), while the scale indicates the significance (two-sided P-value, linear regression model, and fixed-effect model) of the most significant variant-trait association for each variant, in relation to its corresponding absolute and relative substructure volumes across all GWASs. c The Venn diagram illustrates the shared and distinct prioritized genes for medulla (red), pons (purple), and midbrain (blue) volumes. d The enrichment map depicts the hierarchical relationships of significant biological pathways enriched by 68 prioritized genes for medulla volumes (red), 89 for pons volumes (purple), and 76 for midbrain volumes (blue). Each circle denotes an enriched pathway, while the line thickness indicates pathway similarity scores measured by overlap genes between two pathways. Source data are provided as a Source Data file.