Table 1.
Analysis of the genotype and allele frequencies of the tested genetic variants comparing subgroups of clinical phenotypes of male infertility against controls.
| Variant (locus) | 1/2 | Subgroup (N) | Genotype, N (%) | Additive | Recessive | Dominant | Genotypic | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1/1 | 1/2 | 2/2 | MAF | p-Value | OR [CI 95%] * | p-Value | OR [CI 95%] * | p-Value | OR [CI 95%] * | p-Value | |||
| rs10129954 | T/C | Controls (n = 1049) | 220 | 501 | 328 | 0.4485 | NA | NA | NA | NA | NA | NA | NA |
| (DPF3) | SpF (n = 709) | 139 | 344 | 226 | 0.4386 | 0.956 | 1.00 [0.87–1.16] | 0.700 | 0.95 [0.74–1.23] | 0.676 | 1.05 [0.84–1.30] | 0.782 | |
| SO (n = 222) | 47 | 96 | 79 | 0.4279 | 0.999 | 1.00 [0.80–1.25] | 0.482 | 1.15 [0.77–1.72] | 0.551 | 0.90 [0.64–1.27] | 0.519 | ||
| NOA (n = 487) | 92 | 248 | 147 | 0.4435 | 0.873 | 1.01 [0.87–1.19] | 0.588 | 0.93 [0.70–1.22] | 0.476 | 1.09 [0.86–1.39] | 0.550 | ||
| SCO (n = 101) | 23 | 51 | 27 | 0.4802 | 0.312 | 1.16 [0.87–1.55] | 0.538 | 1.17 [0.71–1.91] | 0.311 | 1.27 [0.80–2.01] | 0.574 | ||
| MA (n = 51) | 11 | 28 | 12 | 0.4902 | 0.265 | 1.26 [0.84–1.89] | 0.625 | 1.19 [0.59–2.38] | 0.207 | 1.54 [0.79–3.00] | 0.450 | ||
| HS (n = 48) | 7 | 24 | 17 | 0.3958 | 0.460 | 0.85 [0.56–1.30] | 0.444 | 0.72 [0.32–1.65] | 0.640 | 0.86 [0.47–1.60] | 0.727 | ||
| TESE- (n = 140) | 28 | 77 | 35 | 0.475 | 0.464 | 1.10 [0.86–1.40] | 0.698 | 0.92 [0.59–1.43] | 0.140 | 1.36 [0.90–2.03] | 0.215 | ||
| rs10966811 | A/G | Controls (n = 1047) | 136 | 520 | 391 | 0.3782 | NA | NA | NA | NA | NA | NA | NA |
| (TUSC1) | SpF (n = 707) | 97 | 319 | 291 | 0.3628 | 0.253 | 0.92 [0.79–1.06] | 0.833 | 1.03 [0.77–1.39] | 0.084 | 0.83 [0.68–1.02] | 0.164 | |
| SO (n = 220) | 34 | 100 | 86 | 0.3818 | 0.822 | 0.97 [0.76–1.24] | 0.538 | 1.16 [0.73–1.83] | 0.448 | 0.88 [0.63–1.23] | 0.502 | ||
| NOA (n = 487) | 63 | 219 | 205 | 0.3542 | 0.191 | 0.90 [0.76–1.06] | 0.955 | 0.99 [0.71–1.38] | 0.078 | 0.82 [0.65–1.02] | 0.185 | ||
| SCO (n = 100) | 10 | 50 | 40 | 0.35 | 0.401 | 0.87 [0.64–1.20] | 0.390 | 0.74 [0.38–1.47] | 0.576 | 0.89 [0.58–1.35] | 0.657 | ||
| MA (n = 51) | 5 | 27 | 19 | 0.3627 | 0.720 | 0.92 [0.60–1.42] | 0.491 | 0.72 [0.28–1.85] | 0.990 | 1.00 [0.55–1.80] | 0.773 | ||
| HS (n = 48) | 10 | 17 | 21 | 0.3854 | 0.930 | 1.02 [0.66–1.58] | 0.132 | 1.76 [0.84–3.66] | 0.340 | 0.75 [0.41–1.36] | 0.110 | ||
| TESE- (n = 140) | 13 | 66 | 61 | 0.3286 | 0.101 | 0.80 [0.61–1.05] | 0.220 | 0.69 [0.38–1.25] | 0.161 | 0.77 [0.54–1.11] | 0.262 | ||
| rs12870438 | A/G | Controls (n = 1048) | 155 | 502 | 391 | 0.3874 | NA | NA | NA | NA | NA | NA | NA |
| (EPSTI1) | SpF (n = 711) | 101 | 324 | 286 | 0.3699 | 0.353 | 0.93 [0.80–1.08] | 0.786 | 0.96 [0.72–1.28] | 0.264 | 0.89 [0.72–1.09] | 0.534 | |
| SO (n = 220) | 24 | 100 | 96 | 0.3364 | 2.29 × 10−2 | 0.75 [0.59–0.96] | 0.116 | 0.67 [0.40–1.10] | 3.88 × 10−2 | 0.70 [0.50–0.98] | 0.074 | ||
| NOA (n = 491) | 77 | 224 | 190 | 0.3849 | 0.924 | 0.99 [0.85–1.16] | 0.653 | 1.07 [0.79–1.46] | 0.641 | 0.95 [0.75–1.19] | 0.732 | ||
| SCO (n = 102) | 16 | 47 | 39 | 0.3873 | 0.964 | 0.99 [0.74–1.34] | 0.831 | 1.06 [0.61–1.87] | 0.824 | 0.95 [0.63–1.45] | 0.932 | ||
| MA (n = 51) | 7 | 23 | 21 | 0.3627 | 0.522 | 0.87 [0.57–1.33] | 0.780 | 0.89 [0.39–2.03] | 0.482 | 0.81 [0.45–1.45] | 0.779 | ||
| HS (n = 48) | 7 | 26 | 15 | 0.4167 | 0.615 | 1.12 [0.73–1.71] | 0.939 | 0.97 [0.42–2.22] | 0.441 | 1.28 [0.68–2.41] | 0.702 | ||
| TESE- (n = 141) | 19 | 64 | 58 | 0.3617 | 0.413 | 0.90 [0.69–1.16] | 0.688 | 0.90 [0.54–1.50] | 0.388 | 0.85 [0.60–1.22] | 0.683 | ||
| rs7174015 | A/G | Controls (n = 1048) | 257 | 541 | 250 | 0.5033 | NA | NA | NA | NA | NA | NA | NA |
| (USP8) | SpF (n = 706) | 189 | 351 | 166 | 0.5163 | 0.210 | 1.10 [0.95–1.27] | 0.191 | 1.17 [0.93–1.47] | 0.466 | 1.09 [0.86–1.39] | 0.404 | |
| SO (n = 221) | 44 | 119 | 58 | 0.4683 | 0.380 | 0.90 [0.71–1.14] | 0.320 | 0.82 [0.55–1.22] | 0.662 | 0.92 [0.63–1.34] | 0.605 | ||
| NOA (n = 485) | 145 | 232 | 108 | 0.5381 | 4.02 × 10−2 | 1.18 [1.01–1.38] | 2.26 × 10−2 | 1.33 [1.04–1.71] | 0.296 | 1.15 [0.88–1.50] | 0.071 | ||
| SCO (n = 102) | 29 | 53 | 20 | 0.5441 | 0.213 | 1.21 [0.90–1.62] | 0.344 | 1.25 [0.79–1.96] | 0.282 | 1.32 [0.79–2.21] | 0.459 | ||
| MA (n = 51) | 16 | 27 | 8 | 0.5784 | 0.113 | 1.40 [0.92–2.13] | 0.226 | 1.46 [0.79–2.71] | 0.177 | 1.70 [0.79–3.70] | 0.288 | ||
| HS (n = 47) | 8 | 26 | 13 | 0.4468 | 0.380 | 0.82 [0.54–1.27] | 0.320 | 0.67 [0.31–1.47] | 0.665 | 0.86 [0.44–1.68] | 0.606 | ||
| TESE- (n = 141) | 44 | 71 | 26 | 0.5638 | 0.059 | 1.28 [0.99–1.65] | 0.098 | 1.38 [0.94–2.03] | 0.161 | 1.38 [0.88–2.16] | 0.167 | ||
| rs7867029 | C/G | Controls (n = 1050) | 15 | 251 | 784 | 0.1338 | NA | NA | NA | NA | NA | NA | NA |
| (PSAT1) | SpF (n = 711) | 10 | 155 | 546 | 0.1231 | 0.360 | 0.90 [0.73–1.12] | 0.943 | 1.03 [0.44–2.43] | 0.308 | 0.88 [0.70–1.12] | 0.570 | |
| SO (n = 221) | 3 | 37 | 181 | 0.0973 | 0.073 | 0.71 [0.49–1.03] | 0.849 | 0.87 [0.22–3.50] | 0.055 | 0.67 [0.45–1.01] | 0.153 | ||
| NOA (n = 490) | 7 | 118 | 365 | 0.1347 | 0.902 | 0.99 [0.78–1.24] | 0.967 | 1.02 [0.40–2.58] | 0.884 | 0.98 [0.76–1.26] | 0.987 | ||
| SCO (n = 103) | 2 | 27 | 74 | 0.1505 | 0.542 | 1.14 [0.75–1.71] | 0.727 | 1.31 [0.29–5.84] | 0.569 | 1.14 [0.72–1.79] | 0.828 | ||
| MA (n = 50) | 1 | 10 | 39 | 0.12 | 0.673 | 0.87 [0.46–1.64] | 0.767 | 1.37 [0.17–10.97] | 0.586 | 0.83 [0.41–1.65] | 0.789 | ||
| HS (n = 48) | 1 | 15 | 32 | 0.1771 | 0.239 | 1.40 [0.80–2.45] | 0.737 | 1.43 [0.18–11.52] | 0.234 | 1.46 [0.78–2.74] | 0.490 | ||
| TESE- (n = 141) | 4 | 29 | 108 | 0.1312 | 0.910 | 0.98 [0.67–1.42] | 0.204 | 2.07 [0.67–6.35] | 0.620 | 0.90 [0.59–1.36] | 0.325 | ||
* Odds ratio (OR) and 95% confidence interval (CI) for the minor allele. SpF, spermatogenic failure; NOA, non-obstructive azoospermia; SCO, Sertoli cell-only; MA, meiotic arrest; HS, hypospermatogenesis; TESE, testicular sperm extraction; SO, severe oligospermia. Significant p-values are highlighted in bold.