Table 3.
Selected SNPs to test “in vitro” functionality and to develop the AP-induced EPS pharmacogenetic predictor
Gene | SNP | A1 | A2 | IDa | Locationb | MAFc | HWEc | p-valuec,d | LDc, e | SiNoPsis | MAFf | HWEf | Codf | Domf | Recf | Overf | Addf |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AKT1 | rs1130214 | G | T | A1 | 14:105259500–105261800 | 0.34 | 0.05 | 0.002 | 1.00 | creSNP | 0.33 | 0.308 | 0.04 | 0.147 | 0.136 | 0.02 | 0.654 |
rs74090038 | G | A | A2 | 14:105262088–105263088 | 0.32 | 0.06 | 0.028 | 0.83 | creSNP | 0.32 | 0.315 | 0.122 | 0.325 | 0.135 | 0.810 | 0.101 | |
rs67583154 | C | T | A3 | 14:105265588–105267500 | 0.12 | 0.34 | 0.635 | 0.38 | ecreSNP | 0.15 | 0.436 | 0.305 | 0.317 | 0.335 | 0.206 | 0.480 | |
rs33925946 | C | A | A4 | 14:105271000–105272088 | 0.30 | 0.07 | 0.032 | 0.67 | creSNP | 0.30 | 0.357 | 0.01 | 0.147 | 0.05 | 0.01 | 0.730 | |
FCHSD1 | rs1421896 | A | C | F1 | 5:141015900–141017000 | 0.41 | 0.268 | 0.884 | 0.35 | ecreSNP | 0.37 | 0.889 | 0.822 | 0.830 | 0.624 | 0.591 | 0.931 |
rs34798770 | C | T | F2 | 5:141036800–141038500 | 0.34 | 0.829 | 0.246 | 0.25 | creSNP | 0.44 | 0.795 | 0.818 | 0.628 | 0.898 | 0.582 | 0.808 | |
DDIT4 | rs1053639 | T | A | D1 | 10:74034943–74035797 | 0.37 | 0.492 | 0.002 | 1.00 | ecreSNP | 0.41 | 0.894 | 0.381 | 0.984 | 0.189 | 0.328 | 0.470 |
rs4747241 | C | T | D2 | 10:74035797–74036678 | 0.38 | 0.364 | 0.004 | 0.64 | ecreSNP | 0.42 | 0.594 | 0.414 | 0.715 | 0.286 | 0.235 | 0.731 | |
rs4747242 | A | C | D3 | 10:74036797–74037678 | 0.37 | 0.492 | 0.002 | 0.92 | ecreSNP | 0.40 | 0.596 | 0.386 | 0.847 | 0.177 | 0.401 | 0.392 | |
rs10823911 | A | C | D4 | 10:74039870–74040480 | 0.18 | 0.821 | 0.008 | 0.92 | eSNP | 0.40 | 0.689 | 0.413 | 0.801 | 0.189 | 0.452 | 0.380 | |
Raptor | rs34726568 | T | TA | R1 | 17:78518000–78521100 | 0.16 | 1 | 0.002 | 0.07 | ecreSNP | 0.21 | 0.558 | 0.03 | 0.184 | 0.01 | 0.752 | 0.05 |
rs9899898 | G | A | R2 | 17:78578583–78580283 | 0.34 | 0.06 | 0.026 | 0.48 | ecreSNP | 0.33 | 0.04 | 0.665 | 0.385 | 0.654 | 0.539 | 0.371 | |
rs9915667 | A | G | R3 | 17:78753340–78756340 | 0.41 | 0.246 | 0.002 | 0.19 | ecreSNP | 0.45 | 0.516 | 0.05 | 0.04 | 0.04 | 0.799 | 0.01 |
MAF minimum allele frequency, HWE Hardy–Weinberg equilibrium, LD linkage disequilibrium, Cod codominant, Dom dominant, Rec recessive, Over overdominant, Add logg-additive
Summary of the genetic association analysis of AP-induced EPS performed in the Discovery cohort (N = 131). The p-value of each inheritance model is show. Each model was adjust by age, sex and dosage. In bold, nominal significant p-values are shown
aRegion code identifier used throughout the manuscript
bLocation of the fragment cloned upstream of the Luc2P gene according to GRCh37/hg19
cCalculated with the 88 samples of the Discovery cohort that where re-sequenced
dp-value of the best model (codominant, dominant, recessive, overdominant, log-additive) in the preliminary association test
eLD with the variant of the original predictor for each gene
fCalculated with the Discovery cohort (N = 131)