Table 1.- Variants (SNPs) included in the PRS calculation
(Disease/Trait: Endometriosis)
rsID Risk allele Effect size
rs10859871 C 0.182
rs7521902 A 0.174
rs1537377 C 0.140
Effect size: LN(OR)
Table 2.- PRS Score distribution among populations and regions
(Disease/Trait: Endometriosis)
count mean sd se lower.ci upper.ci
Pyrenean regions
WEST 103 0.041 0.026 0.003 0.036 0.046
SOUTH 45 0.048 0.030 0.004 0.039 0.057
EAST 57 0.042 0.031 0.004 0.034 0.050
Populations
IBS 53 0.050 0.030 0.004 0.042 0.058
PIR 205 0.043 0.028 0.002 0.039 0.046
Table 3.- Pairwise t-test for PRS score among populations and regions
(Disease/Trait: Endometriosis)
group1 group2 n1 n2 p p.signif p.adj p.adj.signif
IBS PIR 53 205 0.1060 ns 1.000 ns
IBS WEST 53 103 0.0591 ns 0.591 ns
IBS SOUTH 53 45 0.7710 ns 1.000 ns
IBS EAST 53 57 0.1540 ns 1.000 ns
WEST SOUTH 103 45 0.1450 ns 1.000 ns
WEST EAST 103 57 0.7750 ns 1.000 ns
SOUTH EAST 45 57 0.2840 ns 1.000 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: Endometriosis)
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 −0.440 0.660 . white 0.030 0.976 . white −0.440 0.660 . white 0.370 0.711 . white
pct75.95 1.410 0.159 . white −1.710 0.087 . white 1.410 0.159 . white 0.040 0.968 . white
pct50.75 −2.810 0.005 ** −1.550 0.121 . white −2.810 0.005 ** −3.230 0.001 **
pct25.50 1.170 0.242 . white 2.550 0.011 * 1.170 0.242 . white 2.110 0.035 *
pct25 0.690 0.490 . white 0.490 0.624 . white 0.690 0.490 . white 1.090 0.276 . 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