Table 2.
Analysis of the allele and genotype frequencies of the tested genetic variants in Iberian infertile men accordingly with the presence (“with manifestation”) and the absence (“without manifestation”) of specific male infertility patterns.
| Variant (locus) | 1/2 | Subgroup (N) | With Manifestation | Without Manifestation | Additive | Recessive | Dominant | Genotypic | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Genotypes (11/12/22) | MAF | Genotypes (11/12/22) | MAF | p-Value | OR [CI 95%] ** | p-Value | OR [CI 95%] ** | p-Value | OR [CI 95%] ** | p-Value | |||
| rs10129954 | T/C | SO/NOA (n = 222/487) | 47/96/79 | 0.4279 | 92/248/147 | 0.4435 | 0.756 | 0.96 [0.76–1.22] | 0.717 | 1.08 [0.71–1.63] | 0.433 | 0.87 [0.61–1.24] | 0.580 |
| (DPF3) | SCO/noSCO (n = 101/130) | 23/51/27 | 0.4802 | 25/66/39 | 0.4462 | 0.525 | 1.13 [0.78–1.64] | 0.519 | 1.24 [0.65–2.34] | 0.687 | 1.13 [0.63–2.02] | 0.795 | |
| MA/noMA (n = 51/180) | 11/28/12 | 0.4902 | 37/89/54 | 0.4528 | 0.386 | 1.22 [0.78–1.91] | 0.853 | 1.08 [0.50–2.32] | 0.242 | 1.55 [0.74–3.24] | 0.492 | ||
| HS/noHS (n = 48/183) | 7/24/17 | 0.3958 | 41/93/49 | 0.4781 | 0.213 | 0.74 [0.46–1.19] | 0.241 | 0.59 [0.24–1.43] | 0.381 | 0.73 [0.37–1.47] | 0.442 | ||
| TESE-/TESE+ (n = 140/92) | 28/77/35 | 0.475 | 16/46/30 | 0.4239 | 0.254 | 1.26 [0.85–1.86] | 0.622 | 1.19 [0.60–2.35] | 0.195 | 1.47 [0.82–2.63] | 0.429 | ||
| rs10966811 | A/G | SO/NOA (n = 220/487) | 34/100/86 | 0.3818 | 63/219/205 | 0.3542 | 0.427 | 1.10 [0.87–1.40] | 0.466 | 1.19 [0.74–1.92] | 0.548 | 1.11 [0.79–1.56] | 0.714 |
| (TUSC1) | SCO/noSCO (n = 100/130) | 10/50/40 | 0.35 | 15/62/53 | 0.3538 | 0.961 | 0.99 [0.66–1.48] | 0.753 | 0.87 [0.37–2.04] | 0.894 | 1.04 [0.61–1.77] | 0.926 | |
| MA/noMA (n = 51/179) | 5/27/19 | 0.3627 | 20/85/74 | 0.3492 | 0.844 | 1.05 [0.65–1.70] | 0.705 | 0.82 [0.29–2.33] | 0.614 | 1.18 [0.62–2.26] | 0.757 | ||
| HS/noHS (n = 48/182) | 10/17/21 | 0.3854 | 15/95/72 | 0.3434 | 0.470 | 1.20 [0.73–1.96] | 2.05 × 10−2 | 2.88 [1.18–7.07] | 0.571 | 0.83 [0.43–1.59] | 2.95 × 10−2 | ||
| TESE-/TESE+ (n = 140/92) | 13/66/61 | 0.3286 | 17/37/38 | 0.3859 | 0.198 | 0.78 [0.53–1.14] | 4.07 × 10−2 | 0.44 [0.20–0.97] | 0.711 | 0.90 [0.53–1.54] | 0.116 | ||
| rs12870438 | A/G | SO/NOA (n = 220/491) | 24/100/96 | 0.3364 | 77/224/190 | 0.3849 | 0.126 | 0.83 [0.65–1.05] | 0.102 | 0.65 [0.39–1.09] | 0.321 | 0.84 [0.60–1.18] | 0.236 |
| (EPSTI1) | SCO/noSCO (n = 102/130) | 16/47/39 | 0.3873 | 20/64/46 | 0.4000 | 0.735 | 0.94 [0.64–1.37] | 0.917 | 1.04 [0.51–2.13] | 0.573 | 0.86 [0.50–1.47] | 0.814 | |
| MA/noMA (n = 51/181) | 7/23/21 | 0.3627 | 29/88/64 | 0.4033 | 0.519 | 0.86 [0.54–1.36] | 0.636 | 0.80 [0.33–1.98] | 0.567 | 0.83 [0.43–1.58] | 0.812 | ||
| HS/noHS (n = 48/184) | 7/26/15 | 0.4167 | 29/85/70 | 0.3886 | 0.533 | 1.16 [0.73–1.84] | 0.774 | 0.88 [0.35–2.17] | 0.265 | 1.49 [0.74–2.98] | 0.419 | ||
| TESE-/TESE+ (n = 141/93) | 19/64/58 | 0.3617 | 20/40/33 | 0.4301 | 0.169 | 0.77 [0.53–1.12] | 0.110 | 0.57 [0.28–1.14] | 0.436 | 0.81 [0.47–1.39] | 0.272 | ||
| rs7174015 | A/G | * SO/NOA (n = 221/485) | 44/119/58 | 0.4683 | 145/232/108 | 0.5381 | 3.23 × 10−2 | 0.77 [0.61–0.98] | 4.84 × 10−3 | 0.56 [0.38–0.84] | 0.519 | 0.88 [0.60–1.30] | 1.78 × 10−2 |
| (USP8) | SCO/noSCO (n = 102/128) | 29/53/20 | 0.5441 | 33/69/26 | 0.5273 | 0.779 | 1.06 [0.72–1.55] | 0.646 | 1.15 [0.64–2.06] | 0.973 | 0.99 [0.51–1.91] | 0.885 | |
| MA/noMA (n = 51/179) | 16/27/8 | 0.5784 | 46/95/38 | 0.5223 | 0.230 | 1.33 [0.84–2.11] | 0.423 | 1.32 [0.66–2.64] | 0.245 | 1.66 [0.71–3.90] | 0.459 | ||
| HS/noHS (n = 47/183) | 8/26/13 | 0.4468 | 54/96/33 | 0.5574 | 0.073 | 0.64 [0.40–1.04] | 0.082 | 0.48 [0.21–1.10] | 0.253 | 0.64 [0.30–1.37] | 0.184 | ||
| TESE-/TESE+ (n = 141/91) | 44/71/26 | 0.5638 | 21/46/24 | 0.4835 | 0.087 | 1.40 [0.95–2.04] | 0.174 | 1.52 [0.83–2.79] | 0.150 | 1.59 [0.85–3.00] | 0.229 | ||
| rs7867029 | C/G | SO/NOA (n = 221/490) | 3/37/181 | 0.0973 | 7/118/365 | 0.1347 | 3.51 × 10−2 | 0.66 [0.45–0.97] | 0.820 | 1.18 [0.28–4.97] | 1.87 × 10−2 | 0.61 [0.40–0.92] | 4.87 × 10−2 |
| (PSAT1) | SCO/noSCO (n = 103/129) | 2/27/74 | 0.1505 | 2/32/95 | 0.1395 | 0.607 | 1.15 [0.67–1.96] | 0.859 | 1.20 [0.16–8.71] | 0.605 | 1.17 [0.65–2.11] | 0.873 | |
| MA/noMA (n = 50/182) | 1/10/39 | 0.12 | 3/49/130 | 0.1511 | 0.262 | 0.67 [0.33–1.35] | 0.784 | 1.38 [0.14–14.05] | 0.192 | 0.60 [0.28–1.29] | 0.366 | ||
| HS/noHS (n = 48/184) | 1/15/32 | 0.1771 | 3/44/137 | 0.1359 | 0.486 | 1.25 [0.66–2.37] | 0.737 | 1.49 [0.15–15.29] | 0.505 | 1.27 [0.63–2.57] | 0.785 | ||
| TESE-/TESE+ (n = 141/91) | 4/29/108 | 0.1312 | 0/22/69 | 0.1209 | 0.764 | 1.09 [0.62–1.91] | 0.999 | 1.04 × 109 [0.00–Inf] | 0.879 | 0.95 [0.51–1.77] | 0.864 | ||
* Odds ratios (OR) and 95% confidence intervals (CI) considering non-obstructive azoospermia (NOA) as cases and severe oligospermia (SO) as controls: additive = 1.29 (1.02–1.64), recessive = 1.78 (1.19–2.65), dominant = 1.14 (0.77–1.67). ** OR for the minor allele. MAF, minor allele frequency; SCO, Sertoli cell-only; MA, maturation arrest; HS, hypospermatogenesis; TESE, testicular sperm extraction. Significant p-values are highlighted in bold.