Table 2.
Mendelian randomization studies of various outcomes where PCOS is the exposure
| Outcome | Year | Authors | Population of exposure | Population of outcome | SNPs, n | Effect | P-value |
|---|---|---|---|---|---|---|---|
| BMI | 2019 | Brower et al | 10 074 cases and 103 164 controls | 2685 white individuals | 16 | Beta: 0.003 (−0.008, 0.013) | NR |
| BMI | 2020 | Zhao et al | 4386 cases and 8017 controls, East Asians | up to 173 430 East Asians | 11 | OR: 0.998 (0.998, 1.009) | 0.77 |
| T2D in East Asians (all) | 2021 | Zhu et al | 14 562 cases and 17 266 controls, East Asians | AGEN consortium, 77 418 cases and 356 122 controls, East Asian | 13 | OR: 0.98 (0.96, 1.01) | 0.13 |
| T2D in East Asians (female) | 2021 | Zhu et al | 14 562 cases and 17 266 controls, East Asians | AGEN consortium, 27 370 cases and 135 055 controls, East Asian | 13 | OR: 0.98 (0.95, 1.02) | 0.33 |
| T2D in East Asians (male) | 2021 | Zhu et al | 14 562 cases and 17 266 controls, East Asians | AGEN consortium, 28 027 cases and 89 312 controls, East Asian | 13 | OR: 0.99 (0.95, 1.02) | 0.45 |
| T2D in Europeans (all) | 2021 | Zhu et al | 10 074 cases and 103 164 controls | DIAMANTE consortium, 74 124 cases and 824 006 controls | 14 | OR: 0.97 (0.92, 1.01) | 0.16 |
| T2D in Europeans (female) | 2021 | Zhu et al | 10 074 cases and 103 164 controls | DIAMANTE consortium, 30 053 cases and 434 336 controls | 14 | OR: 0.95 (0.88, 1.02) | 0.16 |
| T2D in Europeans (male) | 2021 | Zhu et al | 10 074 cases and 103 164 controls | DIAMANTE consortium, 41 846 cases and 383 767 controls | 14 | OR: 0.98 (0.93, 1.03) | 0.42 |
| CHD | 2021 | Zhu et al | 10 074 cases and 103 164 controls | UKBB + CARDIoGRAMplusC4D, 122 733 cases and 424 528 controls, mostly European | 14 | OR: 1.00 (0.96, 1.04) | 0.88 |
| Any stroke | 2021 | Zhu et al | 10 074 cases and 103 164 controls | MEGASTROKE consortium, 40 585 cases and 406 111 controls | 14 | OR: 0.98 (0.93, 1.02) | 0.33 |
| Any ischemic stroke | 2021 | Zhu et al | 10 074 cases and 103 164 controls | MEGASTROKE consortium, 34 217 cases and 406 111 controls | 14 | OR: 0.98 (0.93, 1.03) | 0.40 |
| Large artery stroke | 2021 | Zhu et al | 10 074 cases and 103 164 controls | MEGASTROKE consortium, 4373 cases and 406 111 controls | 14 | OR: 0.88 (0.78, 1.00) | 0.06 |
| Cardioembolic stroke | 2021 | Zhu et al | 10 074 cases and 103 164 controls | MEGASTROKE consortium, 7193 cases and 406 111 controls | 14 | OR: 0.92 (0.83, 1.02) | 0.10 |
| Small vessel stroke | 2021 | Zhu et al | 10 074 cases and 103 164 controls | MEGASTROKE consortium, 5386 cases and 406 111 controls | 14 | OR: 1.10 (0.95, 1.27) | 0.21 |
| Borderline ovarian cancer | 2019 | Harris et al | 10 074 cases and 103 164 controls | OCAC, 3103 cases and 40 941 controls | 14 | OR: 1.08 (0.94, 1.25) | 0.27 |
| Serous ovarian cancer (borderline) | 2019 | Harris et al | 10 074 cases and 103 164 controls | OCAC, 1954 cases and 40 941 controls | 14 | OR: 1.06 (0.89, 1.27) | 0.52 |
| Mucinous ovarian cancer (borderline) | 2019 | Harris et al | 10 074 cases and 103 164 controls | OCAC, 1149 cases and 40 941 controls | 14 | OR: 1.13 (0.90, 1.41) | 0.29 |
| Invasive ovarian cancer | 2019 | Harris et al | 10 074 cases and 103 164 controls | OCAC, 22 406 cases and 40 941 controls | 14 | OR: 0.92 (0.85, 0.99) | 0.03 |
| Low-grade serous ovarian cancer (invasive) | 2019 | Harris et al | 10 074 cases and 103 164 controls | OCAC, 1 012 cases and 40 941 controls | 14 | OR: 1.09 (0.83, 1.43) | 0.53 |
| High-grade serous ovarian cancer (invasive) | 2019 | Harris et al | 10 074 cases and 103 164 controls | OCAC, 13 037 cases and 40 941 controls | 14 | OR: 0.91 (0.82, 0.998) | 0.046 |
| Mucinous ovarian cancer (invasive) | 2019 | Harris et al | 10 074 cases and 103 164 controls | OCAC, 1417 cases and 40 941 controls | 14 | OR: 1.13 (0.92, 1.38) | 0.25 |
| Endometrioid ovarian cancer (invasive) | 2019 | Harris et al | 10 074 cases and 103 164 controls | OCAC, 2810 cases and 40 941 controls | 14 | OR: 0.77 (0.65, 0.92) | 0.003 |
| Clear cell ovarian cancer (invasive) | 2019 | Harris et al | 10 074 cases and 103 164 controls | OCAC, 1366 cases and 40 941 controls | 14 | OR: 0.90 (0.73, 1.10) | 0.30 |
| Overall breast cancer | 2020 | Wu et al | 10 074 cases and 103 164 controls | BCAC, 122 977 cases and 105 974 controls | 13 | OR: 1.08 (1.05, 1.12) | 7.98E-07 |
| ER + breast cancer | 2020 | Wu et al | 10 074 cases and 103 164 controls | BCAC, 69 501 cases and 105 974 controls | 13 | OR: 1.10 (1.06, 1.14) | 3.78E-07 |
| ER- breast cancer | 2020 | Wu et al | 10 074 cases and 103 164 controls | BCAC, 21 468 cases and 105 974 controls | 13 | OR: 1.01 (0.95, 1.07) | 0.675 |
| Luminal A-like | 2021 | Zhu et al | 10 074 cases and 103 164 controls | NR | 14 | OR: 1.10 (1.06, 1.15) | 1.53E-06 |
| Luminal B/HER2-negative-like | 2021 | Zhu et al | 10 074 cases and 103 164 controls | NR | 14 | OR: 1.10 (1.02, 1.19) | 0.014 |
| Luminal B-like | 2021 | Zhu et al | 10 074 cases and 103 164 controls | NR | 14 | OR: 1.19 (1.06, 1.33) | 0.003 |
| HER2-enriched-like | 2021 | Zhu et al | 10 074 cases and 103 164 controls | NR | 14 | OR: 0.98 (0.85, 1.12) | 0.732 |
| Triple-negative | 2021 | Zhu et al | 10 074 cases and 103 164 controls | NR | 14 | OR: 1.02 (0.94-1.10) | 0.612 |
| FEV1 | 2020 | van der Plaat et al | 10 074 cases and 103 164 controls | 159 511 white nonasthmatic women of the UKBB | 19 | −2.10mL (−10.1, 5.93) | 0.608 |
| FVC | 2020 | van der Plaat et al | 10 074 cases and 103 164 controls | 159 511 white nonasthmatic women of the UKBB | 19 | −11.2mL (−21.7, −0.63) | 0.038 |
| FEV1/FVC | 2020 | van der Plaat et al | 10 074 cases and 103 164 controls | 159 511 white nonasthmatic women of the UKBB | 19 | 0.16% (0.00, 0.31) | 0.05 |
| Airflow obstruction | 2020 | van der Plaat et al | 10 074 cases and 103 164 controls | 159 511 white nonasthmatic women of the UKBB | 19 | OR: 0.96 (0.88, 1.04) | 0.311 |
| Spirometric restriction | 2020 | van der Plaat et al | 10 074 cases and 103 164 controls | 159 511 white nonasthmatic women of the UKBB | 19 | OR: 1.07 (0.99, 1.15) | 0.086 |
| Periodontitis | 2021 | Wu et al | 10 074 cases and 103 164 controls | 12 289 cases and 22 326 controls, European | 13 | OR: 0.97 (0.88, 1.06) | 0.50 |
| Offspring birth weight | 2021 | Wu et al | 10 074 cases and 103 164 controls | Early Growth Genetics Consortium and UKBB (n = 257 734) | 13 | Beta: −0.013 (0.012) | 0.26 |
Cohorts are of European ancestry if not stated. Effect data are given as beta (95% CI) [first row], beta (SE) [last row], the reported effect [van der Plaat et al], or odds ratio (95% CI).
Abbreviations: AGEN, Asian Genetic Epidemiology Network; BCAC, Breast Cancer Association Consortium; BMI, body mass index; CARDIoGRAMplusC4D, Coronary ARtery DIsease Genome wide Replication and Meta-analysis (CARDIoGRAM) plus the Coronary Artery Disease (C4D) Genetics consortium; CHD, coronary heart disease; DIAMANTE: DIAbetes Meta-ANalysis of Trans-Ethnic association studies; ER, estrogen receptor; FEV1, forced expiratory volume in 1 s; FVC, forced vital capacity; NR, not reported; OCAC, Ovarian Cancer Association Consortium; OR, odds ratio; PCOS, polycystic ovary syndrome; SNPs, single nucleotide polymorphisms; T2D, type 2 diabetes; UKBB: UK Biobank.