Table 3.
Associations with TDS and its sub-phenotypes, TGCC, cryptorchidism, hypospadias and infertility for the top markers in the discovery stage and for replicated markers
| Gene | Marker | Phase | Risk allele | OR (95% CI) | ||||
| TDS | TGCC | Cryptorchidism | Hypospadias | Infertility | ||||
| KITLG | rs1352947 | Discovery | T | 1.56 (1.18 to 1.97) | 2.74 (1.82 to 4.26) | 1.08 (0.77 to 1.55) | 1.00 (0.52 to 2.11) | 1.26 (0.86 to 1.90) |
| Replication | 1.93 (1.39 to 2.69) | 2.23 (1.55 to 3.28) | 1.38 (0.89 to 2.24) | na | na | |||
| TGFBR3 | rs12082710 | Discovery | T | 1.77 (1.33 to 2.36) | 1.55 (1.07 to 2.23) | 1.62 (1.07 to 2.44) | 2.04 (0.90 to 4.56) | 2.38 (1.54 to 3.70) |
| Replication | 1.52 (1.08 to 2.15) | 1.49 (1.04 to 2.14) | 1.64 (0.99 to 2.71) | na | na | |||
| BMP7 | rs388286 | Discovery | C | 1.36 (1.11 to 1.67) | 1.38 (1.06 to 1.79) | 1.49 (1.11 to 2.01) | 1.24 (0.70 to 2.22) | 1.21 (0.89 to 1.66) |
| Replication | 1.28 (1.01 to 1.62) | 1.37 (1.06 to 1.78) | 1.09 (0.78 to 1.52) | na | na | |||
| HOXDx | rs17198432 | Discovery | A | 2.58 (1.82 to 3.70) | 2.85 (1.86 to 4.38) | 2.9 (1.81 to 4.63) | 2.83 (1.11 to 6.64) | 1.76 (1.01 to 3.01) |
| Replication | 0.97 (0.64 to 1.48) | 0.96 (0.61 to 1.50) | 1.00 (0.52 to 1.83) | na | na | |||
na, these phenotypes were not assessed in the replication stage.
TGCC, testicular germ cell cancer; TDS, testicular dysgenesis syndrome.