Table 2.
Prevalence of the validated potentially protein-truncating variants among cases and controls
| Gene/mutation | POSa) | Genotype | No. (%) |
Odds ratio | Significance level p-value | |
|---|---|---|---|---|---|---|
| MM | CONTROLS | |||||
| WWOX (insAAGTA) | 79211976 | ALLELE Xb) | 1,058 (91.0) | 1,399 (90.4) | ||
| Heterozygote XY | 102 (8.8) | 143 (9.2) | 0.943 | 0.667 | ||
| ALLELE Yc) | 4 (0.3) | 5 (0.3) | 1.058 | 0.933 | ||
| WWOX (delGGGCT) | 7921995 | ALLELE X | 1,160 (97.8) | 1,603 (98.5) | ||
| Heterozygote XY | 23 (1.9) | 23 (1.4) | 1.382 | 0.277 | ||
| ALLELE Y | 3 (0.3) | 2 (0.1) | 2.073 | 0.425 | ||
| VRK1 (delTG) | 96860761 | ALLELE X | 789 (89.2) | 761 (86.4) | ||
| Heterozygote XY | 96 (10.8) | 114 (12.9) | 0.945 | 0.698 | ||
| ALLELE Y | 0 | 6 (0.7) | 0.086 | 0.095 | ||
| NUDT17 (delG) | 145847527 | ALLELE X | 1,008 (95.0) | 1,720 (94.1) | ||
| Heterozygote XY | 47 (4.4) | 104 (5.7) | 0.771 | 0.149 | ||
| ALLELE Y | 2 (0.2) | 3 (0.2) | 1.138 | 0.888 | ||
| SAMD11 (insT) | 939436 | ALLELE Y | 101 (9.0) | 194 (11.9) | ||
| Heterozygote XY | 1,003 (90.2) | 1,415 (86.9) | 0.594 | 0.219 | ||
| ALLELE X | 8 (0.7) | 19 (1.2) | 0.809 | 0.629 | ||
| DNAH14 (delAAGA) | 225192859 | ALLELE X | 919 (87.0) | 1,561 (87.1) | ||
| Heterozygote XY | 134 (12.6) | 221 (12.3) | 1.030 | 0.801 | ||
| ALLELE Y | 7 (0.7) | 10 (0.6) | 1.189 | 0.726 | ||
| CABLES1 (delCG) | 23136057 | ALLELE X | 805 (88.0) | 1,447 (87.1) | ||
| Heterozygote XY | 107 (11.7) | 204 (12.3) | 0.943 | 0.643 | ||
| ALLELE Y | 5 (0.5) | 11 (0.6) | 0.817 | 0.709 | ||
| CREB3L3 (insG) | 4168367 | ALLELE X | 1,210 (99.0) | 1,501 (99.5) | ||
| Heterozygote XY | 12 (1.0) | 7 (0.5) | 2.127 | 0.114 | ||
| EFCAB6 (delCT) | 43537404 | ALLELE X | 1,110 (93.7) | 907 (93.1) | ||
| Heterozygote XY | 74 (6.2) | 63 (6.5) | 0.960 | 0.817 | ||
| ALLELE Y | 1 (0.1) | 4 (0.4) | 0.204 | 0.156 | ||
| MYCT1 (delAGAT) | 152697964 | ALLELE X | 1,135 (94.9) | 3,874 (94.9) | ||
| Heterozygote XY | 59 (4.9) | 200 (4.9) | 1.007 | 0.964 | ||
| ALLELE Y | 2 (0.2) | 6 (0.1) | 1.138 | 0.874 | ||
| CARD6 (delTT) | 40841469 | ALLELE X | 1,144 (95.9) | 1,631 (96.2) | ||
| Heterozygote XY | 48 (4.0) | 65 (3.8) | 1.053 | 0.791 | ||
| ALLELE Y | 1 (0.1) | 0 ( | 4.276 | 0.374 | ||
| CPNE1 (delA) | 35627312 | ALLELE X | 943 (79.4) | 834 (79.5) | ||
| Heterozygote XY | 229 (19.3) | 204 (19.4) | 0.993 | 0.946 | ||
| ALLELE Y | 15 (1.3) | 11 (1.1) | 1.206 | 0.639 | ||
| EXO5 (delG) | 40515573 | ALLELE X | 1,142 (97.2) | 1,640 (96.4) | ||
| Heterozygote XY | 32 (2.7) | 54 (3.2) | 0.851 | 0.476 | ||
| ALLELE Y | 1 (0.1) | 7 (0.4) | 0.205 | 0.139 | ||
| RRP15 (delC) | 218331057 | ALLELE X | 1,126 (98.6) | 1,020 (98.1) | ||
| Heterozygote XY | 16 (1.4) | 20 (1.9) | 0.811 | 0.536 | ||
| MS4A12 (delA) | 60497504 | ALLELE X | 1,159 (96.3) | 6,216 (97.3) | ||
| Heterozygote XY | 45 (3.7) | 175 (2.7) | 1.379 | 0.059 | ||
| ALLELE Y | 0 | 1 (0.03) | 1.787 | 0.722 | ||
| PRC1 (delCACA) | 90966617 | ALLELE X | 1,053 (95.2) | 4,595 (94.8) | ||
| Heterozygote XY | 49 (4.4) | 233 (4.8) | 0.918 | 0.593 | ||
| ALLELE Y | 4 (0.4) | 18 (0.4) | 0.970 | 0.956 | ||
| CASC3 (delT) | 40141200 | ALLELE X | 1,132 (93.0) | 6,137 (93.1) | ||
| Heterozygote XY | 82 (6.7) | 445 (6.7) | 0.999 | 0.994 | ||
| ALLELE Y | 3 (0.3) | 13 (0.2) | 1.251 | 0.727 | ||
| LEKR1 (delT) | 156979266 | ALLELE X | 1,144 (95.6) | 1,018 (95.0) | ||
| Heterozygote XY | 53 (4.4) | 53 (5.0) | 0.890 | 0.558 | ||
| CNDP2 (delTT) | 74520191 | ALLELE X | 1,207 (99.0) | 1,774 (99.0) | ||
| Heterozygote XY | 12 (1.0) | 18 (1.0) | 0.980 | 0.957 | ||
| STK33 (insAACCA) | 8392543 | ALLELE X | 1,084 (95.0) | 4,658 (96.0) | ||
| Heterozygote XY | 59 (5.2) | 191 (3.9) | 1.327 | 0.064 | ||
| ALLELE Y | 1 (0.1) | 2 (0.04) | 2.148 | 0.532 | ||
| CASP8AP2 (delG) | 89867987 | ALLELE X | 703 (76.4) | 843 (77.4) | ||
| Heterozygote XY | 186 (20.2) | 200 (18.4) | 0.897 | 0.337 | ||
| ALLELE Y | 31 (3.4) | 46 (4.2) | 0.725 | 0.213 | ||
a)
Pos-genomic nucleotide position (Genome assembly GRCh38.p2),
b)
Allele X- major allele,
c)
Allele Y- minor allele.