Table 1.- Variants (SNPs) included in the PRS calculation
(Disease/Trait: Myeloproliferative_neoplasms)
rsID Risk allele Effect size
rs12339666 T 0.293
rs2201862 C 0.199
rs9376092 A 0.166
Effect size: LN(OR)
Table 2.- PRS Score distribution among populations and regions
(Disease/Trait: Myeloproliferative_neoplasms)
count mean sd se lower.ci upper.ci
Pyrenean regions
WEST 168 0.066 0.038 0.003 0.061 0.072
SOUTH 83 0.067 0.043 0.005 0.058 0.077
EAST 146 0.066 0.042 0.003 0.059 0.073
Populations
IBS 107 0.069 0.045 0.004 0.060 0.077
PIR 397 0.067 0.041 0.002 0.063 0.071
Table 3.- Pairwise t-test for PRS score among populations and regions
(Disease/Trait: Myeloproliferative_neoplasms)
group1 group2 n1 n2 p p.signif p.adj p.adj.signif
IBS PIR 107 397 0.651 ns 1 ns
IBS WEST 107 168 0.683 ns 1 ns
IBS SOUTH 107 83 0.828 ns 1 ns
IBS EAST 107 146 0.651 ns 1 ns
WEST SOUTH 168 83 0.889 ns 1 ns
WEST EAST 168 146 0.950 ns 1 ns
SOUTH EAST 83 146 0.851 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: Myeloproliferative_neoplasms)
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 −0.360 0.719 . white −1.040 0.298 . white −0.360 0.719 . white −0.820 0.412 . white
pct75.95 −0.620 0.535 . white −1.820 0.069 . white −0.620 0.535 . white −0.980 0.327 . white
pct50.75 1.780 0.075 . white 3.570 0.000 *** 1.780 0.075 . white 3.210 0.001 **
pct25.50 0.270 0.787 . white 0.630 0.529 . white 0.270 0.787 . white −1.210 0.226 . white
pct25 −0.960 0.337 . white −1.950 0.051 . −0.960 0.337 . white −0.820 0.412 . 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