Fig. 7: Phenotypic and genetic replication of IDPs.

UKBB sample sizes are given in Supplementary Table 2, RS sample size is 8 142, OphtalmoLaus sample size is 2 276. a Scatter plot of the phenotypic correlations between our 17 IDPs in the UKBB and in the replication cohorts, OphtalmoLaus (left) and RS (right). IDPs were corrected for age, sex, eye geometry, and ethnicity (see Methods). Correlations of correlations and their corresponding p-values are displayed. b Correlation of SNP heritabilities, using LDSR (see Methods for statistical test), between our 17 IDPs in the discovery (UKBB) and the replication cohort (RS). c Scatter plot of the genetic correlations, using LDSR (see ref. ⁵⁴ for statistical test), between our 17 IDPs in the discovery (UKBB) and the replication cohort (RS). Weighted-least square regression was used to determine trendline and the significance of the association. To distinguish between the different IDPs, the following colour and shape legend was utilized: ‘S’ denoted tortuosity, ‘*’ for standard deviations, ‘◁’ for temporal angles, the ‘≺’ for bifurcations, and ‘□’ for vascular density. While the red colour is used for arteries, blue for veins, and black for no specific vessel type. Genetic correlations are measured as the correlation of their effect sizes across genetic variants, accounting for linkage disequilibrium (LD) (see ref. ⁵⁴). d Correlation of effect sizes at the SNP level in the discovery (UKBB) and the replication cohort (RS), based on OLS of SNP genotype onto phenotype value. e Benjamini-Hochberg procedure on discovery lead SNPs from the UKBB using the RS. FDR = 0.05 in red, FDR = 0.5 in orange, and observed = expected line in black. The label “missing” indicates that these SNPs were not available in the replication cohort. P-values are based on OLS of SNP genotype onto phenotype values. f Benjamini-Hochberg procedure on genes discovered in the UKBB using the RS. The colour code is the same as in the previous subfigure. The complete figures can be found in Supplementary Note 7. P-values are based on PascalX’s two-sided Chi-square test statistic.