Table 5.
Genetic validation of polycystic ovary syndrome (PCOS) diagnosis. Logistic regressions were performed between PCOS case status and PCOS polygenic risk scores (PCOSPRS). Regressions were adjusted for the first 10 principal components, and each algorithm data set was case matched for age and race
| Algorithm | Cases | Controls | Estimate | SE | P | OR | LCI | UCI | PRS R2 |
|---|---|---|---|---|---|---|---|---|---|
| European | |||||||||
| Coded broad | 1877 | 5052 | 0.06 | 0.03 | .06 | 1.06 | 1.00 | 1.13 | 7.00E-04 |
| Coded strict | 366 | 5052 | 0.17 | 0.06 | .01 | 1.18 | 1.05 | 1.33 | 0.004 |
| Keyword broad | 332 | 5052 | 0.25 | 0.06 | 6.97E-05 | 1.28 | 1.14 | 1.45 | 0.008a |
| Keyword strict | 245 | 5052 | 0.20 | 0.07 | .01 | 1.22 | 1.06 | 1.41 | 0.005 |
| African | |||||||||
| Coded broad | 908 | 1663 | 0.11 | 0.06 | .07 | 1.12 | 0.99 | 1.26 | 0.002 |
| Coded strict | 161 | 1663 | 0.34 | 0.12 | .01 | 1.40 | 1.11 | 1.78 | 0.01 |
| Keyword broad | 129 | 1663 | 0.30 | 0.13 | .03 | 1.34 | 1.03 | 1.75 | 0.007 |
| Keyword strict | 98 | 1663 | 0.40 | 0.15 | .01 | 1.49 | 1.11 | 2.01 | 0.011 |
Abbreviations: LCI, lower confidence interval; OR, odds ratio; PRS, polygenic risk score; R2, pseudo-R2; UCI, upper CI.
a P < .002.