Table 1.- Variants (SNPs) included in the PRS calculation
(Disease/Trait: Systemic_sclerosis)
rsID Risk allele Effect size
rs6457617 T 0.476
rs3130573 G 0.223
rs2233287 A 0.270
rs10488631 C 0.300
rs13021401 T 0.191
Effect size: LN(OR)
Table 2.- PRS Score distribution among populations and regions
(Disease/Trait: Systemic_sclerosis)
count mean sd se lower.ci upper.ci
Pyrenean regions
WEST 168 0.077 0.042 0.003 0.071 0.083
SOUTH 83 0.079 0.043 0.005 0.070 0.089
EAST 146 0.074 0.041 0.003 0.067 0.080
Populations
IBS 107 0.080 0.042 0.004 0.072 0.088
PIR 397 0.076 0.042 0.002 0.072 0.080
Table 3.- Pairwise t-test for PRS score among populations and regions
(Disease/Trait: Systemic_sclerosis)
group1 group2 n1 n2 p p.signif p.adj p.adj.signif
IBS PIR 107 397 0.376 ns 1 ns
IBS WEST 107 168 0.528 ns 1 ns
IBS SOUTH 107 83 0.873 ns 1 ns
IBS EAST 107 146 0.212 ns 1 ns
WEST SOUTH 168 83 0.684 ns 1 ns
WEST EAST 168 146 0.474 ns 1 ns
SOUTH EAST 83 146 0.324 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: Systemic_sclerosis)
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 0.750 0.453 . white −0.200 0.841 . white 0.750 0.453 . white 0.290 0.772 . white
pct75.95 −1.060 0.289 . white −1.570 0.116 . white −1.060 0.289 . white −2.510 0.012 *
pct50.75 0.550 0.582 . white 0.240 0.810 . white 0.550 0.582 . white 0.180 0.857 . white
pct25.50 −2.310 0.021 * 0.630 0.529 . white −2.310 0.021 * 0.640 0.522 . white
pct25 1.870 0.061 . white 0.720 0.472 . white 1.870 0.061 . white 1.270 0.204 . 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