Table 1.- Variants (SNPs) included in the PRS calculation
(Disease/Trait: Nonsyndromic_cleft_lip_with_or_without_cleft_palate)
rsID Risk allele Effect size
rs227731 G 0.322
rs7078160 A 0.307
rs7590268 G 0.351
rs17760296 G 0.405
Effect size: LN(OR)
Table 2.- PRS Score distribution among populations and regions
(Disease/Trait: Nonsyndromic_cleft_lip_with_or_without_cleft_palate)
count mean sd se lower.ci upper.ci
Pyrenean regions
WEST 168 0.087 0.053 0.004 0.079 0.095
SOUTH 83 0.087 0.052 0.006 0.075 0.098
EAST 146 0.083 0.049 0.004 0.075 0.091
Populations
IBS 107 0.082 0.051 0.005 0.073 0.092
PIR 397 0.085 0.051 0.003 0.080 0.090
Table 3.- Pairwise t-test for PRS score among populations and regions
(Disease/Trait: Nonsyndromic_cleft_lip_with_or_without_cleft_palate)
group1 group2 n1 n2 p p.signif p.adj p.adj.signif
IBS PIR 107 397 0.567 ns 1 ns
IBS WEST 107 168 0.475 ns 1 ns
IBS SOUTH 107 83 0.549 ns 1 ns
IBS EAST 107 146 0.887 ns 1 ns
WEST SOUTH 168 83 0.997 ns 1 ns
WEST EAST 168 146 0.535 ns 1 ns
SOUTH EAST 83 146 0.613 ns 1 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: Nonsyndromic_cleft_lip_with_or_without_cleft_palate)
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 0.370 0.711 . white 0.410 0.682 . white 0.370 0.711 . white 0.410 0.682 . white
pct75.95 0.100 0.920 . white 1.220 0.222 . white 0.100 0.920 . white −0.470 0.638 . white
pct50.75 0.440 0.660 . white −1.460 0.144 . white 0.440 0.660 . white 0.480 0.631 . white
pct25.50 0.600 0.549 . white 0.530 0.596 . white 0.600 0.549 . white 0.460 0.646 . white
pct25 −1.280 0.201 . white −0.780 0.435 . white −1.280 0.201 . white −0.680 0.497 . 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