Table 3 Genotype frequencies of the four SNPs in MMR genes in patients and controls and their associations with male infertility risk
SNP ID | Genotype | Controls (n = 480) | Case 1a(n = 524) | Case 2b (n = 768) | ||
|---|---|---|---|---|---|---|
| Â | Â | N (%) | N (%) | OR (95% CI)c | N (%) | OR (95% CI)c |
MLH1 | Â | Â | Â | Â | Â | Â |
rs4647269 | CC | 431 (90.5) | 444 (85.5) | Reference | 665 (86.6) | Reference |
| Â | CT | 45 (9.4) | 72 (13.9) | 1.56 (1.05 to 2.32) | 94 (12.2) | 1.34 (0.92 to 1.96) |
| Â | TT | 0 (0.0) | 3 (0.6) | NA | 4 (0.5) | NA |
| Â | CT/TT | 45 (9.4) | 75 (14.4) | 1.63 (1.10 to 2.41) | 98 (12.7) | 1.39 (0.93 to 2.01) |
P trend | Â | Â | Â | 0.009 | Â | 0.044 |
PMS2 | Â | Â | Â | Â | Â | Â |
rs1059060 | GG | 393 (82.6) | 387 (74.6) | Reference | 534 (69.5) | Reference |
| Â | GA | 79 (16.6) | 112 (21.6) | 1.43 (1.03 to 1.96) | 197 (25.6) | 1.82 (1.36 to 2.44) |
| Â | AA | 4 (0.8) | 20 (3.8) | 5.03 (1.70 to 14.84) | 31 (4.0) | 5.65 (1.98 to 16.15) |
| Â | GA/AA | 83 (17.4) | 132 (25.4) | 1.60 (1.17 to 2.18) | 228 (29.6) | 1.83 (1.37 to 2.43) |
P trend | Â | Â | Â | 0.0003 | Â | < 0.0001 |
MSH5 | Â | Â | Â | Â | Â | Â |
rs2075789 | GG | 401 (85.7) | 392 (76.4) | Reference | 626 (83.2) | Reference |
| Â | GA | 58 (12.4) | 99 (19.3) | 1.73 (1.22 to 2.47) | 106 (14.1) | 1.16 (0.82 to 1.63) |
| Â | AA | 9 (1.9) | 22 (4.2) | 2.48 (1.13 to 5.46) | 20 (2.6) | 1.41 (0.63 to 3.12) |
| Â | GA/AA | 67 (14.3) | 121 (23.6) | 1.83 (1.32 to 2.55) | 126 (19.7) | 1.19 (0.86 to 1.64) |
P trend | Â | Â | Â | 0.0002 | Â | 0.224 |