Table 2. Association statistics at the ESR1 and RBM6-SEMA3F loci for reproductive outcomes.
| UK Biobank (up to 59,357 men and 66,310 women) |
deCODE (up to 117,626 men, 124,284 women) and WGHS (up to 20,187 women) | Combined | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| SNP | Trait | Effect | P | N | Effect | P | N | Effect | P | Maximum Sample |
| rs67229052* ESR1 TA/T/0.36 |
Age at menarche | 0.01 (0.009) | 1.20E-01 | 73,397 | - | - | - | 0.01 (0.009) | 1.20E-01 | 73,397 |
| AFS - Males | -0.02 (0.006) | 3.70E-04 | 59,357 | - | - | - | -0.02 (0.006) | 3.70E-04 | 59,357 | |
| AFS - Females | -0.03 (0.005) | 1.40E-08 | 66,310 | - | - | - | -0.03 (0.005) | 1.40E-08 | 66,310 | |
| AFS - Combined | -0.03 (0.004) | 1.60E-10 | 125,667 | - | - | - | -0.03 (0.004) | 1.60E-10 | 125,667 | |
| AFB - Males | - | - | - | -0.19 (0.03) | 6.73E-09 | 117,626 | -0.19 (0.03) | 6.73E-09 | 117,626 | |
| AFB - Females | -0.15 (0.029) | 2.40E-07 | 50,954 | -0.08 (0.02) | 6.93E-04 | 144,471 | -0.11 (0.02) | 3.58E-09 | 195,425 | |
| AFB - Combined | -0.15 (0.029) | 2.40E-07 | 50,954 | -0.12 (0.02) | 6.96E-08 | 262,097 | -0.13 (0.02) | 1.22E-13 | 313,051 | |
| Num Child - Males | 0.01 (0.003) | 8.20E-02 | 66,498 | 0.009 (0.002) | 1.94E-06 | 117,626 | 0.008 (0.002) | 7.25E-07 | 184,124 | |
| Num Child - Females | 0.01 (0.003) | 3.70E-08 | 75,540 | 0.005 (0.002) | 1.27E-02 | 147,498 | 0.008 (0.002) | 2.15E-07 | 223,038 | |
| Num Child - Combined | 0.01 (0.002) | 3.20E-07 | 142,038 | 0.007 (0.001) | 1.11E-06 | 265,124 | 0.008 (0.001) | 4.82E-12 | 407,162 | |
| Childless - Males | 0.98 (0.01) | 1.30E-01 | 66,498 | 0.97 (0.02) | 2.12E-01 | 97,200 | 0.98 (0.01) | 5.56E-02 | 163,698 | |
| Childless - Females | 0.95 (0.01) | 2.50E-06 | 75,540 | 0.93 (0.02) | 4.00E-04 | 117,972 | 0.94 (0.01) | 4.94E-09 | 193,512 | |
| Childless - Combined | 0.96 (0.008) | 1.10E-05 | 142,038 | 0.95 (0.02) | 9.04E-04 | 215,526 | 0.96 (0.007) | 5.24E-08 | 357,564 | |
| rs2188151 RBM6-SEMA3F T/G/0.43 |
Age at menarche | 0.03 (0.008) | 2.20E-05 | 73,397 | - | - | - | 0.03 (0.008) | 2.20E-05 | 73,397 |
| AFS - Males | -0.03 (0.006) | 1.60E-05 | 59,357 | - | - | - | -0.03 (0.006) | 1.60E-05 | 59,357 | |
| AFS - Females | -0.02 (0.005) | 3.60E-07 | 66,310 | - | - | - | -0.02 (0.005) | 3.60E-07 | 66,310 | |
| AFS - Combined | -0.03 (0.004) | 3.00E-11 | 125,667 | - | - | - | -0.03 (0.004) | 3.00E-11 | 125,667 | |
| AFB - Males | - | - | - | -0.14 (0.032) | 1.00E-05 | 117,626 | -0.14 (0.032) | 1.00E-05 | 117,626 | |
| AFB - Females | -0.16 (0.028) | 7.20E-09 | 50,954 | -0.105 (0.024) | 7.88E-06 | 144,471 | -0.129 (0.018) | 9.52E-13 | 195,425 | |
| AFB - Combined | -0.16 (0.028) | 7.20E-09 | 50,954 | -0.115 (0.022) | 9.18E-08 | 262,097 | -0.132 (0.017) | 8.76E-15 | 313,051 | |
| Num Child - Males | 0.01 (0.003) | 2.70E-02 | 66,498 | 0.003 (0.002) | 7.47E-02 | 117,626 | 0.004 (0.002) | 7.99E-03 | 184,124 | |
| Num Child - Females | 0.01 (0.003) | 1.30E-03 | 75,540 | 0.003 (0.002) | 7.45E-02 | 147,498 | 0.004 (0.001) | 1.35E-03 | 223,038 | |
| Num Child - Combined | 0.01 (0.002) | 1.60E-04 | 142,038 | 0.003 (0.002) | 4.06E-02 | 265,124 | 0.005 (0.001) | 9.05E-05 | 407,162 | |
| Childless - Males | 0.98 (0.01) | 3.40E-02 | 66,498 | -0.017 (0.022) | 4.27E-01 | 97,200 | -0.023 (0.01) | 2.49E-02 | 163,698 | |
| Childless - Females | 0.97 (0.01) | 2.50E-03 | 75,540 | -0.028 (0.019) | 1.52E-01 | 117,972 | -0.032 (0.01) | 8.53E-04 | 193,512 | |
| Childless - Combined | 0.97 (0.008) | 2.70E-04 | 142,038 | -0.023 (0.015) | 1.42E-01 | 215,526 | -0.028 (0.007) | 9.38E-05 | 357,564 | |
*
In WGHS rs67229052 was not imputed so rs4305732 (r2=0.98) was used as a proxy. 1 effect allele / other allele / effect allele frequency