Table 1.- Variants (SNPs) included in the PRS calculation
(Disease/Trait: Ossification_of_the_posterior_longitudinal_ligament_of_the_spine)
rsID Risk allele Effect size
rs2423294 A 0.344
rs374810 G 0.293
rs1979679 T 0.262
rs11045000 A 0.247
rs13279799 C 0.247
Effect size: LN(OR)
Table 2.- PRS Score distribution among populations and regions
(Disease/Trait: Ossification_of_the_posterior_longitudinal_ligament_of_the_spine)
count mean sd se lower.ci upper.ci
Pyrenean regions
WEST 168 0.103 0.039 0.003 0.097 0.109
SOUTH 83 0.104 0.042 0.005 0.095 0.113
EAST 146 0.097 0.041 0.003 0.091 0.104
Populations
IBS 107 0.095 0.037 0.004 0.088 0.102
PIR 397 0.101 0.040 0.002 0.097 0.105
Table 3.- Pairwise t-test for PRS score among populations and regions
(Disease/Trait: Ossification_of_the_posterior_longitudinal_ligament_of_the_spine)
group1 group2 n1 n2 p p.signif p.adj p.adj.signif
IBS PIR 107 397 0.176 ns 1 ns
IBS WEST 107 168 0.105 ns 1 ns
IBS SOUTH 107 83 0.138 ns 1 ns
IBS EAST 107 146 0.713 ns 1 ns
WEST SOUTH 168 83 0.900 ns 1 ns
WEST EAST 168 146 0.175 ns 1 ns
SOUTH EAST 83 146 0.215 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: Ossification_of_the_posterior_longitudinal_ligament_of_the_spine)
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 1.820 0.069 . white 1.250 0.211 . white 1.820 0.069 . white 1.660 0.097 . white
pct75.95 0.270 0.787 . white 1.300 0.194 . white 0.270 0.787 . white −0.280 0.779 . white
pct50.75 1.050 0.294 . white 0.590 0.555 . white 1.050 0.294 . white 1.500 0.134 . white
pct25.50 −1.350 0.177 . white −1.680 0.093 . white −1.350 0.177 . white −2.300 0.021 *
pct25 −0.610 0.542 . white −0.570 0.569 . white −0.610 0.542 . white 0.300 0.764 . 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