Extended Data Fig. 5: GWAS effect size estimates and replication.
From: Genetic and functional insights into the fractal structure of the heart
a, Effect size distribution of loci with genetic variant associations of Padjust = 5 × 10−8 in any univariate per-slice fractal dimension GWAS (sample size, n = 18,096 individuals). P were values derived from linear association t-statistics. Distributions are shown for each locus (indicated by chromosomal position and lead genetic variant in the subplot title) across all slices and effect sizes, colour-coded by P value of the association. Variants with no Padjust < 5 × 10−8 in the univariate per-slice fractal dimension GWAS (all blue) were discovered in the multi-trait meta-analyses. b, c, Effect size estimate concordance in discovery and replication cohorts. For each of the nine univariate, per-slice fractal dimension GWAS, the effect size estimates of the genetic variants with the smallest P value for each of the independent loci in the discovery cohort (n = 18,096 individuals) were selected. For some variants, associations that passed the GWAS threshold of Padjust < 5 × 10−8 were discovered in more than one of the nine univariate GWAS fractal dimension slices; for these variants all effect size estimates were selected. Estimates were plotted against the corresponding slice-variant associations in the replication GWAS (b, UK Biobank replication, n = 6,356 individuals; c, UK Digital Heart cohort, n = 1,029 individuals). Non-concordant estimate pairs are depicted in light grey. Effect size estimates that passed the Bonferroni-adjusted validation P-value threshold of P < 0.05/16 = 0.003 are depicted as triangles. r2 for linear model of \({\hat{\beta }}_{{\rm{discovery}}} \sim {\hat{\beta }}_{{\rm{replication}}}\).
