Fig. 4. Circular presentation of single variant and gene-based association of stroke-related biochemical, behavioral, and imaging traits.

Chromosomes were indicated by numbered panels 1–22. The –log₁₀ P for single variant and gene-based genetic association with the traits by chromosomal position was shown by the blue and yellow panels, respectively. The significance threshold was P < 2.78 × 10^–9 and P < 1.50 × 10^–7 for single variant and gene-based association test correcting for the number of traits tested (n = 18) and the number of genes tested (n = 17,464). In the outermost blue panel, genetic loci, namely, the 1 Mbp window centering on the lead SNV, were indicated by the nearest gene of the independent lead SNV in the single variant association analysis. Genetic loci that had not been reported to be associated with the same trait in the GWAS catalog (v1.0.2-e105_r2021-12-21) were marked by a star (*) and shown in bold and orange. In the innermost yellow panel, gene loci that passed the gene-based association test using variants with MAF < 0.005 (Supplementary Table S20) are shown. Additionally, the CETP and PCSK9 gene loci that also passed the gene-based association test using rare functional variants alone (Supplementary Table S21) were marked by number (#) and shown in bold. Color keys in the middle represent the categories of the traits.