Table 1. Summary of the top SNPs showing or approaching genome-wide significant association (P<5 × 10−8) in meta-analysis.
| SNP * | Alleles † | RAF ‡ | Gene | JAK2 V617F -negative cases | JAK2V617F-negative and all JAK2V617F positive | JAK2V617F-negative and JAK2V617F-positive ET and MF cases | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P META | OR (CI) | I 2 | PAR | P META | OR (CI) | I 2 | PAR | P META | OR (CI) | I 2 | PAR | ||||
| rs12339666§ | T/G | 0.26 | JAK2 | 1.272 × 10−10 | 1.34 (1.23–1.47) | 0 | 17.4 | 2.287 × 10−62 | 1.76 (1.65–1.88) | 96.2 | 27.5 | 1.748 × 10−20 | 1.43 (1.33–1.55) | 53.4 | 21.0 |
| rs2201862 | T/C | 0.48 | −MECOM | 1.964 × 10−9 | 0.82 (0.77–0.88) | 0 | 16.5 | 4.075 × 10−10 | 0.84 (0.80–0.89) | 0 | 14.3 | 1.671 × 10−9 | 0.84 (0.79–0.89) | 0 | 14.7 |
| rs9376092 | A/C | 0.27 | HBS1L-MYB | 5.273 × 10−6 | 1.18 (1.10–1.26) | 62 | 7.4 | 5.547 × 10−7 | 1.16 (1.09–1.23) | 79.4 | 6.9 | 7.766 × 10−10 | 1.22 (1.14–1.30) | 66.5 | 9.0 |
| rs4858647 | A/C | 0.11 | THRB-RARB | 1.393 × 10−5 | 1.24 (1.13–1.37) | 77 | 4.2 | 8.994 × 10−5 | 1.18 (1.09–1.29) | 72.9 | 3.1 | 3.764 × 10−5 | 1.21 (1.10–1.32) | 75.1 | 3.6 |
| rs2736100‖ | C/A | 0.51 | TERT | 1.728 × 10−5 | 1.31 (1.16–1.47) | 0 | 34.9 | 3.667 × 10−26 | 1.51 (1.40–1.63) | 71.0 | 42.7 | 4.026 × 10−13 | 1.43 (1.31–1.57) | 83.5 | 37.8 |
*rs identifier from dbSNP.
†Risk-associated/non-risk-associated alleles.
‡Frequency of risk allele in controls that were used to calculate population attributable risk (PAR). PMETA, fixed effects meta-analysis of allelic χ2 tests; OR, odds ratio; CI, 95% confidence interval; I2, heterogeneity index (0–100).
§In JAK2V617F-negative cases, meta-analysis is based on a combination of four studies instead of six. In JAK2V617F-negative and all JAK2V617F-positive cases, meta-analysis is based on a combination of six studies instead of eight. In JAK2V617F-negative and ET and PMF JAK2V617F-positive cases, meta-analysis is based on a combination of five studies instead of seven.
‖In JAK2V617F-negative cases, meta-analysis is based on a combination of two studies instead of six. In JAK2V617F-negative and all JAK2V617F-positive cases, meta-analysis is based on a combination of four studies instead of eight. In JAK2V617F-negative and ET and PMF JAK2V617F-positive cases, meta-analysis is based on a combination of three studies instead of seven.