Table 1. SEPTIN12 allele frequencies in infertile men and control subjects.
| SNP | Allele frequency | Genotype frequency (%) | ||||||
| Allele | Control (n = 400) (%)) | Spermatogenic failure (n = 320) (%) | p | Genotype | Control (n = 200) (%) | Spermatogenic failure (n = 160) (%) | p | |
| IVS1+ 83A>G | A | 279 (69.8%) | 219 (68.4%) | 0.705 | AA | 93(46.5%) | 80 (50%) | 0.060 |
| G | 121(30.2%) | 101(31.6%) | AG | 93(46.5%) | 59 (37% ) | |||
| GG | 14 (7%) | 21 (13%) | ||||||
| IVS1+ 316A>G | A | 307 (76.8%) | 239 (74.7%) | 0.521 | AA | 117 (58.5%) | 91 (56.9%) | 0.616 |
| G | 93 (23.2%) | 81 (25.3%) | GA | 73(36.5%) | 57 (35.6%) | |||
| GG | 10 (5%) | 12(7.5%) | ||||||
| IVS1+ 334C>T | C | 395 (98.7%) | 315(98.4%) | 0.722 | CC | 195 (97.5%) | 155 (96.9%) | 0.720 |
| T | 5 (1.3%) | 5( 1.6%) | CT | 5(2.5%) | 5 (3.1%) | |||
| TT | 0 (0%) | 0 (0%) | ||||||
| c.332 C>A | C | 394(98.5%) | 318 (99.4%) | 0.266 | CC | 194 (97%) | 158 (98.7%) | 0.263 |
| A | 6(1.5%) | 2 (0.6%) | CA | 6 (3%) | 2 (0.3% ) | |||
| AA | 0(0%) | 0 (0%) | ||||||
| c.375− 1G>A | G | 383 (95.7%) | 297 (92.8%) | 0.087 | GG | 183 (91.5%) | 137 (85.6%) | 0.078 |
| A | 17 (4.3%) | 23 (7.2%) | GA | 17 (8.5%) | 23 (14.4%) | |||
| AA | 0 (0%) | 0 (0%) | ||||||
| c.474 G>A | G | 360(90%) | 266 (83.1%) | 0.007** | GG | 163 (81.5%) | 121(75.6%) | 0.003** |
| A | 40(10%) | 54( 16.9%) | GA | 34(17%) | 24(15.0%) | |||
| AA | 3(1.5%) | 15(9.4%) | ||||||
| c.494 T>A | T | 304 (76%) | 264 (96%) | 0.034* | TT | 104(52%) | 104 (65%) | 0.013* |
| A | 96(24%) | 56(4%) | TA | 96(48%) | 56 (35% ) | |||
| AA | 0(0%) | 0 (0%) | ||||||
| IVS5+ 71A>G | A | 386 (96.5%) | 311 (97.2%) | 0.602 | AA | 187 (93.5%) | 153 (95.6%) | 0.333 |
| G | 14 (3.5%) | 9( 2.8%) | AG | 12 (6%) | 5 (3.1%) | |||
| GG | 1(0.5%) | 2 (1.3%) | ||||||
| IVS6+ 35G>A | G | 385 (96.2%) | 302 (94.4%) | 0.232 | GG | 185 (92.5%) | 146 (91.2%) | 0.074 |
| A | 15 (3.8%) | 18 (5.6%) | GA | 15 (7.5%) | 10 (6.3%) | |||
| AA | 0 (0.0%) | 4 (2.5%) | ||||||
| IVS8+ 7G>A | G | 392(98.0%) | 312 (97.5%) | 0.651 | GG | 192(96.0%) | 152 (95.0%) | 0.647 |
| A | 8 (2.0%) | 8 (2.5%) | GA | 8(4.0%) | 8 (5.0%) | |||
| AA | 0(0.0%) | 0(0.0%) | ||||||
Nucleotide numbering indicates cDNA numbering with 1+ corresponding to the A of the ATG translation initiation codon in the reference cDNA sequence of SEPTIN12 (NM_144605.3).