Table 1.
Sample characteristics of data-sets used in genetic analyses
| GWAS stage, dataset | n | Continent | Diagnosis, % bipolar disorder type I | Gender, % male | AAO, median (MAD,a range) | Definition of AAO | PAO,b n (%) |
|---|---|---|---|---|---|---|---|
| Discovery | |||||||
| wtccc | 1452 | Europe | 89.53 | 36.85 | 24 (8.9, 9–63) | Impairment/help-seeking | |
| tgco2 | 865 | North America | 100 | 33.64 | 17 (5.93, 8–46) | Diagnostic interview | PAO-M: 316 (38.92); PAO-D: 496 (61.08) |
| gain | 797 | North America | 100 | 48.06 | 18 (5.93, 8–45) | Diagnostic interview | PAO-M: 135 (18.57); PAO-D: 440 (60.52) |
| stp1 | 718 | North America | 100 | 44.01 | 16 (5.93, 8–41) | Diagnostic interview | PAO-M: 137 (19.08); PAO-D: 420 (58.5) |
| gsk1 | 715 | North America | 89.51 | 36.36 | 19 (7.51, 8–52) | Diagnostic interview | PAO-M: 102 (14.61); PAO-D: 395 (56.59) |
| usc2 | 681 | North America | 96.18 | 47.58 | 18 (7.41, 8–48) | Impairment/help-seeking | |
| bonn | 638 | Europe | 99.84 | 47.34 | 25 (8.9, 9–64) | Impairment/help-seeking | |
| ucl2 | 604 | Europe | 100 | 44.37 | 30 (11.86, 9–60) | Pharmacotherapy | PAO-M: 47 (9.96); PAO-D: 209 (44.28) |
| bmg3 | 455 | Europe | 57.14 | 40.66 | 24 (10.38, 10–62) | Impairment/help-seeking | PAO-M: 43 (16.35); PAO-D: 159 (60.46) |
| m&m's | 449 | Europe | 74.83 | 52.12 | 23 (10.38, 8–65) | Mixed | PAO-M: 73 (17.14); PAO-D: 238 (55.87) |
| uclo | 439 | Europe | 100 | 39.86 | 22 (7.41, 8–51) | Impairment/help-seeking | PAO-M: 54 (14.25); PAO-D: 197 (51.98) |
| fran | 411 | Europe | 77.62 | 41.36 | 22 (7.41, 10–58) | Diagnostic interview | |
| euoR | 410 | Europe | 75.85 | 44.15 | 22 (9.64, 11–59) | Mixed | |
| hal2 | 355 | North America | 71.55 | 42.54 | 23 (8.9, 8–56) | Diagnostic interview | PAO-M: 102 (29.65); PAO-D: 213 (61.92) |
| ume4 | 354 | Europe | 69.21 | 37.85 | 20 (8.9, 8–63) | Diagnostic interview | PAO-M: 54 (14.25); PAO-D: 197 (51.98) |
| swa2 | 344 | Europe | 81.10 | 41.86 | 23 (10.38, 10–70) | Impairment/help-seeking | |
| bmpo | 319 | Europe | 78.06 | 39.18 | 28 (11.86, 10–63) | Impairment/help-seeking | PAO-M: 41 (16.33); PAO-D: 150 (59.76) |
| top7 | 301 | Europe | 62.79 | 41.53 | 19 (7.41, 8–49) | Diagnostic interview | |
| may1 | 257 | North America | 100 | 45.14 | 20 (8.9, 8–62) | Diagnostic interview | PAO-M: 34 (13.23); PAO-D: 142 (55.25) |
| bmsp | 248 | Europe | 94.76 | 45.56 | 22 (7.41, 9–57) | Impairment/help-seeking | PAO-M: 24 (10.04); PAO-D: 93 (38.91) |
| bmau | 245 | Australia | 79.18 | 40.82 | 19 (7.41, 8–55) | Diagnostic interview | PAO-M: 46 (20.18); PAO-D: 125 (54.82) |
| edi1 | 244 | Europe | 99.18 | 42.62 | 20 (5.93, 13–50) | Diagnostic interview | |
| rom3 | 226 | Europe | 100 | 41.15 | 25 (10.38, 12–59) | Diagnostic interview | PAO-M: 91 (40.27); PAO-D: 134 (59.29) |
| butr | 204 | Europe | 100 | 40.2 | 22 (5.19, 13–44) | Impairment/help-seeking | |
| euoI | 191 | Europe | 74.87 | 31.41 | 24 (8.9, 13–67) | Diagnostic interview | PAO-M: 48 (27.43); PAO-D: 98 (56) |
| ageu | 178 | Europe | 90.45 | 39.33 | 21 (7.41, 8–51) | Impairment/help-seeking | |
| mich | 169 | North America | 100 | 31.36 | 18 (5.93, 8–45) | Diagnostic interview | PAO-M: 42 (24.85); PAO-D: 84 (49.7) |
| naom | 159 | North America | 84.91 | 44.65 | 18 (7.41, 8–66) | Mixed | PAO-M: 30 (28.85); PAO-D: 51 (49.04) |
| bmg2 | 152 | Europe | 59.87 | 35.53 | 27 (10.38, 13–63) | Impairment/help-seeking | |
| top8 | 111 | Europe | 55.86 | 37.84 | 18 (7.41, 8–49) | Diagnostic interview | |
| h66x | 92 | Europe | 82.61 | 36.96 | 30 (10.38, 9–55) | Mixed | |
| auom | 85 | Australia | 88.24 | 45.88 | 25 (10.38, 8–64) | Diagnostic interview | |
| euo2 | 58 | Europe | 65.52 | 56.9 | 26 (8.9, 18–57) | Diagnostic interview | |
| dub1 | 51 | Europe | 100 | 54.9 | 21 (5.93, 12–45) | Diagnostic interview | |
| Summary | 12 977 | 88.27 | 41.57 | 21 (8.9, 8–70) | PAO–M: 1435 (21.19); PAO-D: 3885 (57.36) | ||
| Replication | |||||||
| ukwa1 | 1156 | Europe | 75.17 | 38.15 | 23 (8.9, 8–74) | Impairment/help-seeking | |
| dutch | 468 | Europe | 100 | 42.31 | 28 (10.38, 11–63) | Pharmacotherapy | |
| jst5 | 186 | North America | 100 | 53.23 | 16 (7.41, 8–51) | Unknown | |
| colo | 176 | South America | 90.34 | 31.82 | 20 (11.86, 8–52) | Diagnostic interview | |
| bmrom | 126 | Europe | 100 | 42.86 | 24 (8.9, 12–56) | Diagnostic criteria | |
| bdtrs | 125 | Europe | 64 | 45.6 | 28 (13.34, 8–65) | Impairment/help-seeking | |
| Summary | 2237 | 84.40 | 40.46 | 24 (10.38, 8–74) | |||
| All data | 15 214 | 86.26 | 41.41 | 22 (8.9, 8–74) |
GWAS, genome-wide association study; AAO, age at onset; MAD, median absolute deviation, PAO, polarity at onset; PAO-M, mania/hypomania before depression; PAO-D, depression before mania/hypomania.
a. We calculated the median absolute deviation using 1.4826 as constant.
b. We defined three categories of polarity at onset: PAO-M, mania/hypomania before depression; PAO-D, depression before mania/hypomania; and PAO-X, mixed. PAO was not available for all patients. The table presents the PAO-M and PAO-D subgroups and their percentage within the individual cohorts.