Table 1.- Variants (SNPs) included in the PRS calculation
(Disease/Trait: Congenital_heart_malformation)
rsID Risk allele Effect size
rs1531070 A 0.336
rs2474937 G 0.336
Effect size: LN(OR)
Table 2.- PRS Score distribution among populations and regions
(Disease/Trait: Congenital_heart_malformation)
count mean sd se lower.ci upper.ci
Pyrenean regions
WEST 168 0.079 0.071 0.005 0.068 0.090
SOUTH 83 0.091 0.078 0.009 0.074 0.108
EAST 146 0.103 0.081 0.007 0.090 0.116
Populations
IBS 107 0.089 0.081 0.008 0.073 0.104
PIR 397 0.090 0.077 0.004 0.083 0.098
Table 3.- Pairwise t-test for PRS score among populations and regions
(Disease/Trait: Congenital_heart_malformation)
group1 group2 n1 n2 p p.signif p.adj p.adj.signif
IBS PIR 107 397 0.84500 ns 1.0000 ns
IBS WEST 107 168 0.30900 ns 1.0000 ns
IBS SOUTH 107 83 0.83300 ns 1.0000 ns
IBS EAST 107 146 0.14600 ns 1.0000 ns
WEST SOUTH 168 83 0.24300 ns 1.0000 ns
WEST EAST 168 146 0.00608 ** 0.0608 ns
SOUTH EAST 83 146 0.26200 ns 1.0000 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: Congenital_heart_malformation)
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 −0.880 0.379 . white −0.320 0.749 . white −0.880 0.379 . white 0.320 0.749 . white
pct75.95 0.190 0.849 . white −1.720 0.085 . white 0.190 0.849 . white 0.690 0.490 . white
pct50.75 0.310 0.757 . white −0.260 0.795 . white 0.310 0.757 . white 0.360 0.719 . white
pct25.50 0.090 0.928 . white 0.820 0.412 . white 0.090 0.928 . white 0.680 0.497 . white
pct25 −0.340 0.734 . white 0.150 0.881 . white −0.340 0.734 . white −1.570 0.116 . 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