Table 1.- Variants (SNPs) included in the PRS calculation
(Disease/Trait: Infantile_hypertrophic_pyloric_stenosis)
rsID Risk allele Effect size
rs11712066 A 0.476
rs29784 T 0.351
rs573872 G 0.344
rs11216185 G 0.451
rs1208285 C 0.223
Effect size: LN(OR)
Table 2.- PRS Score distribution among populations and regions
(Disease/Trait: Infantile_hypertrophic_pyloric_stenosis)
count mean sd se lower.ci upper.ci
Pyrenean regions
WEST 168 0.142 0.043 0.003 0.135 0.148
SOUTH 83 0.150 0.051 0.006 0.139 0.161
EAST 146 0.146 0.045 0.004 0.138 0.153
Populations
IBS 107 0.147 0.044 0.004 0.139 0.156
PIR 397 0.145 0.045 0.002 0.140 0.149
Table 3.- Pairwise t-test for PRS score among populations and regions
(Disease/Trait: Infantile_hypertrophic_pyloric_stenosis)
group1 group2 n1 n2 p p.signif p.adj p.adj.signif
IBS PIR 107 397 0.633 ns 1 ns
IBS WEST 107 168 0.317 ns 1 ns
IBS SOUTH 107 83 0.679 ns 1 ns
IBS EAST 107 146 0.794 ns 1 ns
WEST SOUTH 168 83 0.169 ns 1 ns
WEST EAST 168 146 0.423 ns 1 ns
SOUTH EAST 83 146 0.496 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: Infantile_hypertrophic_pyloric_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 1.340 0.180 . white −1.390 0.165 . white 1.340 0.180 . white 0.290 0.772 . white
pct75.95 −1.250 0.211 . white −0.790 0.430 . white −1.250 0.211 . white −1.260 0.208 . white
pct50.75 0.870 0.384 . white −0.500 0.617 . white 0.870 0.384 . white 0.240 0.810 . white
pct25.50 0.190 0.849 . white 1.170 0.242 . white 0.190 0.849 . white 0.640 0.522 . white
pct25 −0.660 0.509 . white 0.580 0.562 . white −0.660 0.509 . white 0.170 0.865 . 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