Table 1.- Variants (SNPs) included in the PRS calculation
(Disease/Trait: Breast_cancer)
rsID Risk allele Effect size
rs78540526 T 0.293
rs13387042 A 0.128
rs10995190 G 0.151
rs10771399 A 0.151
rs10941679 G 0.113
rs13281615 G 0.095
rs11249433 G 0.086
rs12662670 G 0.157
rs1292011 A 0.083
rs999737 C 0.083
rs17356907 A 0.094
rs16857609 T 0.077
rs13329835 G 0.077
rs11814448 C 0.239
rs2943559 G 0.122
rs1432679 C 0.068
rs6828523 C 0.105
rs4808801 A 0.073
rs17817449 T 0.073
rs3817198 C 0.068
rs2823093 G 0.073
rs7904519 G 0.049
rs2236007 G 0.073
rs6504950 G 0.062
rs6762644 G 0.068
rs616488 A 0.062
rs941764 G 0.068
rs3903072 G 0.051
rs17529111 C 0.058
rs720475 G 0.062
rs9790517 T 0.049
Effect size: LN(OR)
Table 2.- PRS Score distribution among populations and regions
(Disease/Trait: Breast_cancer)
count mean sd se lower.ci upper.ci
Pyrenean regions
WEST 103 0.042 0.005 0.000 0.041 0.043
SOUTH 45 0.041 0.005 0.001 0.040 0.043
EAST 57 0.042 0.004 0.001 0.041 0.043
Populations
IBS 53 0.042 0.005 0.001 0.041 0.044
PIR 205 0.042 0.005 0.000 0.041 0.043
Table 3.- Pairwise t-test for PRS score among populations and regions
(Disease/Trait: Breast_cancer)
group1 group2 n1 n2 p p.signif p.adj p.adj.signif
IBS PIR 53 205 0.669 ns 1 ns
IBS WEST 53 103 0.935 ns 1 ns
IBS SOUTH 53 45 0.295 ns 1 ns
IBS EAST 53 57 0.817 ns 1 ns
WEST SOUTH 103 45 0.266 ns 1 ns
WEST EAST 103 57 0.854 ns 1 ns
SOUTH EAST 45 57 0.399 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)
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 0.210 0.834 . white −0.220 0.826 . white 0.210 0.834 . white −0.540 0.589 . white
pct75.95 −1.100 0.271 . white −1.050 0.294 . white −1.100 0.271 . white 0.000 1.000 . white
pct50.75 −0.090 0.928 . white 1.370 0.171 . white −0.090 0.928 . white 0.040 0.968 . white
pct25.50 −0.750 0.453 . white −0.290 0.772 . white −0.750 0.453 . white 0.190 0.849 . white
pct25 1.640 0.101 . white −0.040 0.968 . white 1.640 0.101 . white 0.020 0.984 . 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