Table 1.- Variants (SNPs) included in the PRS calculation
(Disease/Trait: Breast_cancer_estrogen-receptor_negative)
rsID Risk allele Effect size
rs10069690 T 0.166
rs3757322 G 0.140
rs7297051 C 0.139
rs74911261 G 0.198
Effect size: LN(OR)
Table 2.- PRS Score distribution among populations and regions
(Disease/Trait: Breast_cancer_estrogen-receptor_negative)
count mean sd se lower.ci upper.ci
Pyrenean regions
WEST 103 0.098 0.021 0.002 0.094 0.102
SOUTH 45 0.095 0.022 0.003 0.088 0.101
EAST 57 0.093 0.023 0.003 0.087 0.100
Populations
IBS 53 0.099 0.023 0.003 0.093 0.105
PIR 205 0.096 0.022 0.002 0.093 0.099
Table 3.- Pairwise t-test for PRS score among populations and regions
(Disease/Trait: Breast_cancer_estrogen-receptor_negative)
group1 group2 n1 n2 p p.signif p.adj p.adj.signif
IBS PIR 53 205 0.370 ns 1 ns
IBS WEST 53 103 0.794 ns 1 ns
IBS SOUTH 53 45 0.324 ns 1 ns
IBS EAST 53 57 0.174 ns 1 ns
WEST SOUTH 103 45 0.384 ns 1 ns
WEST EAST 103 57 0.193 ns 1 ns
SOUTH EAST 45 57 0.765 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: Breast_cancer_estrogen-receptor_negative)
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 −0.640 0.522 . white −0.420 0.674 . white −0.640 0.522 . white −1.460 0.144 . white
pct75.95 0.380 0.704 . white 0.370 0.711 . white 0.380 0.704 . white 0.080 0.936 . white
pct50.75 −1.500 0.134 . white −0.470 0.638 . white −1.500 0.134 . white −0.430 0.667 . white
pct25.50 0.440 0.660 . white 0.620 0.535 . white 0.440 0.660 . white 1.090 0.276 . white
pct25 0.820 0.412 . white −0.250 0.803 . white 0.820 0.412 . white −0.060 0.952 . 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