Table 1.
PCOS GWAS Susceptibility Loci
| Chromosome | Han Chinese¶ Chen, 2011 (2) Shi, 2012 (3) |
European 1*, Hayes, 2015 (7) |
European 2*¶§ Day, 2015 (8) |
European Meta*¶§ Day, 2018 (9) |
|---|---|---|---|---|
| 2p16.3 | LHCGR | |||
| 2p16.3 | FSHR | |||
| 2p21 | THADA | THADA | THADA | |
| 2q34 | ERBB4 | ERBB4 | ||
| 5q13.1 | RAD50 | RAD50 | ||
| 8p32.1 | GATA4/NEIL2 | GATA4/NEIL2† | ||
| 9p24.1 | PLGRKT | |||
| 9q22.32 | C9orf3 | C9orf3 | C9orf3 | |
| 9q33.3 | DENND1A | DENND1A | ||
| 11p14.1 | FSHB | FSHB | FSHB | |
| 11q22.1 | YAP1 | YAP1 | YAP1 | |
| 11q23.1 | ZBTB16 | |||
| 12q13.2 | RAB5B/SUOX | RAB5B/ERBB3 | ||
| 12q14.3 | HMGA2 | |||
| 12q21.2 | KRR1 | KRR1 | ||
| 16q12.1 | TOX3 | TOX3 | ||
| 19q13.3 | INSR | |||
| 20q11.21 | SUMO1P1 | |||
| 20q13.2 | MAPRE1 |
*
PCOS diagnosis was based on NIH criteria,
¶
Rotterdam criteria, or
§
self-report.
†
PCOS association dependent on diagnostic criteria in bold; association with remaining loci was similar for PCOS diagnosed by self-report and PCOS diagnosed by NIH or non-NIH Rotterdam criteria