Table 3.
Summary of top loci for reproductive disorders with genome-wide significant results
| Endometriosis | Fibroids | Menorrhagia | Ovarian cysts | Polyps | PCOS | Menopausal Symptoms | |
|---|---|---|---|---|---|---|---|
| Num. loci | 18 | 62 | 7 | 7 | 10 | 2 | 1 |
| Top locus: genomic region | 6q25.2 | 17p13.1 | 11p14.1 | 11p14.1 | 3q21.3 | 9q33.3 | 20p12.3 |
| Top SNP | rs58415480 | rs78378222 | rs7929660 | rs11031006 | rs2977562 | rs3945628 | rs16991615 |
| CHR | 6 | 17 | 11 | 11 | 3 | 9 | 20 |
| BP (hg19) | 152562271 | 7571752 | 30317914 | 30226528 | 128106267 | 126535553 | 5948227 |
| P | 6.78E−40 | 1.10E−102 | 7.51E−23 | 7.91E−17 | 1.45E−11 | 2.83E−11 | 1.13E−10 |
| Top locus: start | 151672185 | 7045529 | 29265662 | 30145730 | 127711997 | 126405933 | 5948227 |
| Top locus: finish | 153069721 | 8164352 | 31311001 | 30395871 | 128122820 | 126714111 | 5948227 |
| Associated genes | ESR1, SYNE1 | TP53 | FSHB, ARL14EP | FSHB, ARL14B | EEFSEC | DENND1A | MCM8 |
| Gene function | Reproductive health and genome integrity | Genome integrity | Reproductive health, neuron connectivity | Reproductive health, neuron connectivity | Genome integrity | Reproductive health | Genome integrity |
| Other disorders with same locus | Fibroids | Menorrhagia ovarian cysts | Fibroids ovarian cysts | Fibroids menorrhagia | Endometriosis menorrhagia |