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. 2018 Dec 13;8:276. doi: 10.1038/s41398-018-0330-4

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)