Table 1.- Variants (SNPs) included in the PRS calculation
(Disease/Trait: Glaucoma_primary_open-angle)
rsID Risk allele Effect size
rs6573307 G 0.207
Effect size: LN(OR)
Table 2.- PRS Score distribution among populations and regions
(Disease/Trait: Glaucoma_primary_open-angle)
count mean sd se lower.ci upper.ci
Pyrenean regions
WEST 168 0.092 0.071 0.005 0.081 0.103
SOUTH 83 0.115 0.072 0.008 0.099 0.131
EAST 146 0.099 0.074 0.006 0.086 0.111
Populations
IBS 107 0.096 0.072 0.007 0.082 0.110
PIR 397 0.099 0.073 0.004 0.092 0.106
Table 3.- Pairwise t-test for PRS score among populations and regions
(Disease/Trait: Glaucoma_primary_open-angle)
group1 group2 n1 n2 p p.signif p.adj p.adj.signif
IBS PIR 107 397 0.6760 ns 1.000 ns
IBS WEST 107 168 0.6590 ns 1.000 ns
IBS SOUTH 107 83 0.0746 ns 0.746 ns
IBS EAST 107 146 0.7640 ns 1.000 ns
WEST SOUTH 168 83 0.0188 * 0.188 ns
WEST EAST 168 146 0.4120 ns 1.000 ns
SOUTH EAST 83 146 0.1050 ns 1.000 ns
* p < .05, ** p < .01, *** p < .001
Table 4.- Chi-square test comparison of percentile counts on Pyrenean regions compared to Iberian peninsula population
(Disease/Trait: Glaucoma_primary_open-angle)
Percentile rank PIR WEST SOUTH EAST
adj.std.val p.value sig.val adj.std.val p.value sig.val adj.std.val p.value sig.val adj.std.val p.value sig.val
pct95 0.000 1.000 . white 0.000 1.000 . white 0.000 1.000 . white 0.000 1.000 . white
pct75.95 1.510 0.131 . white −0.430 0.667 . white 1.510 0.131 . white 0.520 0.603 . white
pct50.75 0.000 1.000 . white 0.000 1.000 . white 0.000 1.000 . white 0.000 1.000 . white
pct25.50 −0.110 0.912 . white 0.060 0.952 . white −0.110 0.912 . white −0.440 0.660 . white
pct25 −1.400 0.162 . white 0.310 0.757 . white −1.400 0.162 . white 0.010 0.992 . white
adj.std.val: Adjusted standardized residuals value; p.value: P value; sig.val: statistical significance, * p < .05, ** p < .01, *** p < .001; red dash to bottom: lower counts than reference; green dash to up: upper counts than reference