Table 1.- Variants (SNPs) included in the PRS calculation
(Disease/Trait: Aortic_valve_stenosis)
rsID Risk allele Effect size
rs10455872 G 0.378
rs7543130 A 0.182
rs1830321 T 0.140
rs10406522 C 0.104
Effect size: LN(OR)
Table 2.- PRS Score distribution among populations and regions
(Disease/Trait: Aortic_valve_stenosis)
count mean sd se lower.ci upper.ci
Pyrenean regions
WEST 168 0.050 0.028 0.002 0.045 0.054
SOUTH 83 0.041 0.026 0.003 0.035 0.047
EAST 146 0.046 0.025 0.002 0.042 0.050
Populations
IBS 107 0.049 0.026 0.002 0.044 0.054
PIR 397 0.047 0.027 0.001 0.044 0.049
Table 3.- Pairwise t-test for PRS score among populations and regions
(Disease/Trait: Aortic_valve_stenosis)
group1 group2 n1 n2 p p.signif p.adj p.adj.signif
IBS PIR 107 397 0.4810 ns 1.000 ns
IBS WEST 107 168 0.7650 ns 1.000 ns
IBS SOUTH 107 83 0.0512 ns 0.512 ns
IBS EAST 107 146 0.4830 ns 1.000 ns
WEST SOUTH 168 83 0.0164 * 0.164 ns
WEST EAST 168 146 0.2650 ns 1.000 ns
SOUTH EAST 83 146 0.1540 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: Aortic_valve_stenosis)
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 −0.360 0.719 . white 0.830 0.407 . white −0.360 0.719 . white −1.180 0.238 . white
pct75.95 −1.810 0.070 . white 0.420 0.674 . white −1.810 0.070 . white 0.260 0.795 . white
pct50.75 0.130 0.897 . white −0.230 0.818 . white 0.130 0.897 . white 0.820 0.412 . white
pct25.50 −0.150 0.881 . white −1.120 0.263 . white −0.150 0.881 . white −1.580 0.114 . white
pct25 1.540 0.124 . white 0.560 0.575 . white 1.540 0.124 . white 0.950 0.342 . 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