Table 1.
Participants | Discovery cohort | Validation cohort | Total | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Males | Female | Total | Males | Females | Total | ||||||
N | % | N | % | N | % | N | % | ||||
Total number | 45,198 | 45 | 55,118 | 55 | 100,316 | 44,956 | 45 | 55,359 | 55 | 100,315 | 200,631 |
All CH | 1286 | 45 | 1582 | 55 | 2868 | 1335 | 47 | 1515 | 53 | 2850 | 5718 |
Myeloid CHa | 831 | 46 | 960 | 54 | 1791 | 885 | 49 | 912 | 51 | 1797 | 3588 |
Lymphoid CHb | 135 | 48 | 146 | 52 | 281 | 140 | 46 | 167 | 54 | 307 | 588 |
All mCA | 431 | 42 | 585 | 58 | 1016 | 439 | 44 | 561 | 56 | 1000 | 2016 |
Myeloid mCA | 48 | 53 | 42 | 47 | 90 | 54 | 57 | 41 | 43 | 95 | 185 |
Lymphoid mCA | 57 | 50 | 56 | 50 | 113 | 60 | 48 | 64 | 52 | 124 | 237 |
Other mCA | 326 | 40 | 487 | 60 | 813 | 325 | 42 | 456 | 58 | 781 | 1594 |
All driver mutations | 894 | 47 | 1027 | 53 | 1921 | 941 | 48 | 1001 | 52 | 1942 | 3863 |
Myeloid genesc,d | 805 | 46 | 933 | 54 | 1738 | 854 | 49 | 890 | 51 | 1744 | 3482 |
DNMT3A | 295 | 39 | 470 | 61 | 765 | 348 | 45 | 419 | 55 | 767 | 1532 |
TET2 | 193 | 46 | 225 | 54 | 418 | 188 | 46 | 217 | 54 | 405 | 823 |
ASXL1 | 103 | 64 | 59 | 36 | 162 | 92 | 64 | 51 | 36 | 143 | 305 |
JAK2 | 37 | 58 | 27 | 42 | 64 | 46 | 57 | 35 | 43 | 81 | 145 |
Other myeloid genes | 220 | 54 | 190 | 46 | 410 | 225 | 52 | 207 | 48 | 432 | 842 |
Lymphoid genes | 89 | 49 | 94 | 51 | 183 | 87 | 44 | 111 | 56 | 198 | 381 |
Control (CH-free) | 43,912 | 45 | 53,536 | 55 | 97,448 | 43,621 | 45 | 53,844 | 55 | 97,465 | 194,913 |
a79 participants had both myeloid mutations and myeloid mCA.
bLymphoid CH was defined by lymphoid mCA and/or lymphoid mutations, without myeloid mutations or myeloid mCA. 30 participants had both lymphoid mutations and lymphoid mCA.
c14 participants had both myeloid and lymphoid mutations and were classed as myeloid.
d218 participants had more than one myeloid gene mutation.