Table 2. Frequency of somatic mutations and subtype specific effects.
|
A. Frequency of somatic mutations in
CALR
and
MPL | ||||
|---|---|---|---|---|
| Cohort | CALR No. (%) | MPL No. (%) | CALR and/or MPLNo. (No. double +ve) | Triple −ve No. (%) |
| UK1 | 266 (51.2) | 51 (9.8) | 316 (1) | 204 (39.2) |
| UK2 | 84 (43.3) | 11 (5.7) | 94 (1) | 99 (51) |
| German & Austrian | 136 (47.2) | 83 (28.8) | 217 (2) | 69 (24) |
| Greek | 95 (21.5) | 14 (3.2) | 109 (0) | 333 (75.3) |
| UK3 | 168 (51.9) | 29 (9) | 197 (0) | 127 (39.2) |
| Italian | 322 (52.6) | 56 (9.2) | 377 (1) | 234 (38.2) |
|
B. Association and comparison according to
JAK2V617F
and either
CALR
and/or
MPL | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| SNP | JAK2V617F−ve PMETA (OR) | JAK2V617F+ve UK4 ET&PV PMETA (OR) | P BD | CALR+ve and/orMPL+ve PMETA (OR) | Triple −ve PMETA (OR) | PBD CALR+ve and/or MPL+ve versus triple −ve | JAK2V617F+ve UK4 ET PMETA (OR) | JAK2V617F+ve UK4 PV PMETA (OR) | PBD JAK2V617F+ve ET versus JAK2V617F+ve PV |
| rs12339666 | 1.272 × 10−10 (1.34) | 5.43 × 10−62 (2.43) | 2.82 × 10−18 | 1.299 × 10−8 (1.40) | 0.0002 (1.28) | 0.0266 | 5.344 × 10−13 (1.68) | 1.286 × 10−75 (3.50) | 2.452 × 10−11 |
| rs2736100 | 1.728 × 10−5 (1.31) | 1.92 × 10−21 (1.66) | 0.0026 | 0.0003 (1.32) | 0.0179 (1.26) | 0.6555 | 8.179 × 10−12 (1.62) | 3.153 × 10−14 (1.71) | 0.3864 |
| rs2201862 | 1.964 × 10−9 (0.82) | 0.0368 (0.89) | 0.3218 | 2.628 × 10−6 (0.82) | 5.08 × 10−5 (0.83) | 0.2237 | 0.1716 (0.91) | 0.0733 (0.88) | 0.9684 |
| rs9376092 | 5.273 × 10−6 (1.18) | 0.0566 (1.12) | 0.4967 | 3.869 × 10−6 (1.24) | 0.0493 (1.11) | 4.487 × 10−7 | 2.62 × 10−6 (1.41) | 0.0683 (0.87) | 0.0004 |
| rs4858647 | 1.393 × 10−5 (1.24) | 0.6891 (1.04) | 0.0146 | 0.0010 (1.23) | 0.0072 (1.21) | 0.1018 | 0.7167 (1.04) | 0.8049 (1.03) | 0.4167 |
(A) Number and percentage of cases with somatic mutations in CALR and MPL in each population. Cases with somatic mutations in CALR and MPL are described as double +ve. Triple −ve refers to cases without somatic mutation in JAK2, CALR and MPL. In cohorts with double positives, the percentage of cases will sum to just over 100. (B) PMETA and odds ratio (OR) from fixed effects meta-analyses in subsets of cases defined by the somatic status of JAK2, CALR and MPL. PBD, Breslow–Day test P value.