Table 1.- Variants (SNPs) included in the PRS calculation
(Disease/Trait: Esophageal_cancer_squamous_cell)
rsID Risk allele Effect size
rs4822983 T 0.239
rs4785204 T 0.215
rs2239612 A 0.191
rs17761864 A 0.191
rs2847281 G 0.182
Effect size: LN(OR)
Table 2.- PRS Score distribution among populations and regions
(Disease/Trait: Esophageal_cancer_squamous_cell)
count mean sd se lower.ci upper.ci
Pyrenean regions
WEST 168 0.057 0.026 0.002 0.053 0.061
SOUTH 83 0.055 0.029 0.003 0.048 0.061
EAST 146 0.050 0.027 0.002 0.046 0.055
Populations
IBS 107 0.051 0.029 0.003 0.046 0.057
PIR 397 0.054 0.027 0.001 0.051 0.057
Table 3.- Pairwise t-test for PRS score among populations and regions
(Disease/Trait: Esophageal_cancer_squamous_cell)
group1 group2 n1 n2 p p.signif p.adj p.adj.signif
IBS PIR 107 397 0.3820 ns 1.000 ns
IBS WEST 107 168 0.1120 ns 1.000 ns
IBS SOUTH 107 83 0.3930 ns 1.000 ns
IBS EAST 107 146 0.7650 ns 1.000 ns
WEST SOUTH 168 83 0.5940 ns 1.000 ns
WEST EAST 168 146 0.0384 * 0.384 ns
SOUTH EAST 83 146 0.2360 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: Esophageal_cancer_squamous_cell)
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 0.120 0.904 . white −0.310 0.757 . white 0.120 0.904 . white −0.290 0.772 . white
pct75.95 0.440 0.660 . white 1.050 0.294 . white 0.440 0.660 . white −1.180 0.238 . white
pct50.75 0.960 0.337 . white 0.740 0.459 . white 0.960 0.337 . white 0.890 0.373 . white
pct25.50 −0.220 0.826 . white 1.070 0.285 . white −0.220 0.826 . white 0.390 0.697 . white
pct25 −1.090 0.276 . white −2.490 0.013 * −1.090 0.276 . white −0.140 0.889 . 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