Table 1.
Lead variants associated with infertility in GWAS meta-analyses.
| RSID | chr:pos:A1 :A2 (hg38) | Mapped gene | All ancestries | EUR only | ||||
|---|---|---|---|---|---|---|---|---|
| Average MAF | OR (95% CI) | P-value | Average MAF | OR (95% CI) | P-value | |||
| Female infertility of all causes (F-ALL) | ||||||||
| rs61768001 | chr1:22139327:T:C | WNT4 | 0.166 | 0.909 (0.891–0.927) | 2.25E-21 | 0.163 | 0.911 (0.893–0.93) | 1.24E-19 |
| rs10200851 | chr2:11581956:T:C | GREB1 | 0.458 | 0.951 (0.937–0.965) | 2.90E-11 | 0.456 | 0.951 (0.936–0.965) | 5.84E-11 |
| rs6938404 | chr6:151222906:T:C | AKAP12 | 0.453 | 0.958 (0.943–0.973) | 3.88E-08 | 0.453 | 0.958 (0.943–0.973) | 3.88E-08 |
| rs17803970 | chr6:152232583:A:T | SYNE1 | 0.0836 | 1.09 (1.06–1.12) | 1.91E-10 | 0.0836 | 1.10 (1.07–1.13) | 7.50E-11 |
| rs1964514 | chr8:109463457:C:G | EBAG9 | 0.0595 | 1.13 (1.09–1.16) | 3.01E-14 | 0.0597 | 1.13 (1.09–1.16) | 6.68E-14 |
| Anatomical female infertility (F-ANAT) | ||||||||
| rs340879 | chr1:213983171:T:C | PROX1 | 0.418 | 0.906 (0.874–0.939) | 4.95E-08 | 0.418 | 0.902 (0.869–0.936) | 5.06E-08 |
| Anovulatory female infertility (F-ANOV) | ||||||||
| rs72665317 | chr1:22040580:T:G | CDC42 | 0.190 | 0.875 (0.839–0.913) | 7.76E-10 | 0.18 | 0.886 (0.847–0.927) | 1.45E-07 |
| rs72827480 | chr2:120388925:T:C | INHBB | 0.401 | 0.905 (0.873–0.938) | 4.20E-08 | 0.401 | 0.905 (0.873–0.938) | 4.20E-08 |
| rs1852684 | chr2:145068818:T:G | ZEB2 | 0.367 | 1.12 (1.08–1.16) | 9.25E-10 | 0.35 | 1.12 (1.08–1.17) | 3.44E-10 |
| rs552953683 | chr8:102898586:T:C | AZIN1 | 0.0024 | 0.341 (0.234–0.498) | 2.54E-08 | 0.0024 | 0.341 (0.234–0.498) | 2.54E-08 |
| rs9696009 | chr9:123856954:A:G | DENND1A | 0.0777 | 1.21 (1.14–1.29) | 6.87E-10 | 0.0695 | 1.24 (1.16–1.32) | 2.40E-10 |
| rs9902027 | chr17:7537667:T:C | TNFSF12 | 0.255 | 0.895 (0.86–0.931) | 4.06E-08 | 0.255 | 0.895 (0.86–0.931) | 4.06E-08 |
| rs143459581 | chr22:28068862:T:C | PITPNB | 0.0419 | 1.30 (1.19–1.43) | 1.21E-08 | 0.0419 | 1.30 (1.19–1.43) | 1.21E-08 |
| rs17879961 | chr22:28725099:A:G | CHEK2 | 0.0389 | 0.739 (0.673–0.811) | 1.55E-10 | 0.0389 | 0.739 (0.673–0.811) | 1.55E-10 |
| Idiopathic female infertility, exclusion definition (F-EXCL) | ||||||||
| rs61768001 | chr1:22139327:T:C | WNT4 | 0.165 | 0.923 (0.902–0.946) | 7.49E-11 | 0.162 | 0.928 (0.906–0.951) | 2.48E-09 |
| rs111597692 | chr8:109039973:T:C | TRHR | 0.0323 | 1.16 (1.10–1.22) | 1.51E-08 | 0.0323 | 1.16 (1.1–1.22) | 1.51E-08 |
| rs17378154 | chr8:109568721:A:G | EBAG9 | 0.059 | 1.13 (1.09–1.17) | 1.64E-10 | 0.0593 | 1.13 (1.09–1.17) | 3.36E-10 |
| Idiopathic female infertility, inclusion definition (F-INCL) | ||||||||
| rs61768001 | chr1:22139327:T:C | WNT4 | 0.170 | 0.87 (0.839–0.903) | 6.87E-14 | 0.165 | 0.872 (0.840–0.905) | 8.96E-13 |
| rs11692588 | chr2:11544358:A:G | GREB1 | 0.358 | 0.919 (0.892–0.947) | 2.98E-08 | 0.358 | 0.919 (0.892–0.947) | 2.98E-08 |
| rs190290095 | chr4:39786858:A:G | UBE2K | 0.0022 | 0.227 (0.137–0.375) | 7.60E-09 | 0.0022 | 0.227 (0.137–0.375) | 7.60E-09 |
| rs851982 | chr6:151703850:T:C | ESR1 | 0.428 | 0.921 (0.895–0.947) | 7.60E-09 | 0.437 | 0.922 (0.896–0.949) | 2.86E-08 |
| rs17378154 | chr8:109568721:A:G | EBAG9 | 0.0565 | 1.18 (1.11–1.25) | 2.47E-08 | 0.0569 | 1.18 (1.11–1.25) | 4.97E-08 |
| rs74156208 | chr10:61509370:A:G | TMEM26 | 0.184 | 1.10 (1.06–1.14) | 4.96E-08 | 0.187 | 1.10 (1.07–1.15) | 5.44E-08 |
| Male infertility of all causes (M-ALL) | ||||||||
| rs1228269928* | chr2:132923776:A:T | NCKAP5 | 0.0006 | 0.0995 (0.0441–0.224) | 2.72E-08 | 0.0006 | 0.0995 (0.0441–0.224) | 2.72E-08 |
| rs150639836 | chr10:53879806:T:C | PCDH15 | 0.0109 | 0.505 (0.402–0.636) | 5.72E-09 | 0.0109 | 0.505 (0.402–0.636) | 5.72E-09 |
| rs139862664 | chr10:116879589:C:G | ENO4 | 0.0072 | 0.388 (0.277–0.543) | 3.29E-08 | 0.0072 | 0.388 (0.277–0.543) | 3.29E-08 |
A1 is the effect allele.
*
lead variant is reported in only one cohort.