Table 1.- Variants (SNPs) included in the PRS calculation
(Disease/Trait: Primary_biliary_cholangitis)
rsID Risk allele Effect size
rs7774434 C 0.470
rs12531711 G 0.457
rs485499 T 0.322
rs12134279 T 0.293
rs8017161 A 0.199
rs12924729 G 0.255
rs860413 A 0.262
rs2293370 G 0.300
rs11117432 G 0.270
rs538147 G 0.207
rs968451 T 0.239
rs1800693 C 0.199
rs1372072 A 0.182
rs6974491 A 0.223
rs7208487 T 0.278
Effect size: LN(OR)
Table 2.- PRS Score distribution among populations and regions
(Disease/Trait: Primary_biliary_cholangitis)
count mean sd se lower.ci upper.ci
Pyrenean regions
WEST 168 0.133 0.021 0.002 0.130 0.137
SOUTH 83 0.132 0.020 0.002 0.128 0.136
EAST 146 0.132 0.023 0.002 0.128 0.136
Populations
IBS 107 0.134 0.022 0.002 0.130 0.138
PIR 397 0.133 0.021 0.001 0.131 0.135
Table 3.- Pairwise t-test for PRS score among populations and regions
(Disease/Trait: Primary_biliary_cholangitis)
group1 group2 n1 n2 p p.signif p.adj p.adj.signif
IBS PIR 107 397 0.625 ns 1 ns
IBS WEST 107 168 0.901 ns 1 ns
IBS SOUTH 107 83 0.543 ns 1 ns
IBS EAST 107 146 0.548 ns 1 ns
WEST SOUTH 168 83 0.583 ns 1 ns
WEST EAST 168 146 0.590 ns 1 ns
SOUTH EAST 83 146 0.926 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: Primary_biliary_cholangitis)
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 −1.350 0.177 . white −0.580 0.562 . white −1.350 0.177 . white −2.350 0.019 *
pct75.95 −0.860 0.390 . white −0.560 0.575 . white −0.860 0.390 . white 0.640 0.522 . white
pct50.75 1.150 0.250 . white 1.070 0.285 . white 1.150 0.250 . white 0.890 0.373 . white
pct25.50 −0.560 0.575 . white −0.840 0.401 . white −0.560 0.575 . white −1.280 0.201 . white
pct25 0.990 0.322 . white 0.670 0.503 . white 0.990 0.322 . white 0.950 0.342 . 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