Table 1. Association of the five SNPs in MPN patients stratified by mutation profiles.
| SNP | Alleles* | Taiwanese RAF# | Gene | All MPN cases (n=178†) | JAK2V617F-positive cases (n=121†) | JAK2V617F-negative cases (n=55) | CALR-mutated cases (n=17) | Western RAF# | Western JAK2V617F-negative and all JAK2V617F positive | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P value | OR (95% CI) | PAR | P value | OR (95% CI) | PAR | P value | OR (95% CI) | PAR | P value | OR (95% CI) | PAR | P value | OR (95% CI) | PAR | |||||
| rs12343867 | C/T | 0.25 | JAK2 46/1 | 3.616 × 10-19 | 2.81 (2.23 - 3.54) | 42.9 | 5.604 × 10-21 | 3.52 (2.67 - 4.63) | 46.6 | 0.009 | 1.70 (1.14 - 2.54) | 36.3 | 0.573 | 1.24 (0.59 - 2.61) | 28.6 | 0.24§ | 6.379 × 10-43 | 3.19 (2.69 - 3.79) | 48.1 |
| rs12339666 | T/G | 0.26 | JAK2 intron 8 | 1.941 × 10-19 | 2.81 (2.23 - 3.53) | 45.8 | 4.365 × 10-21 | 3.50 (2.67 - 4.60) | 49.1 | 0.007 | 1.71 (1.15 - 2.55) | 40.2 | 0.701 | 1.16 (0.55 - 2.44) | 25.1 | 0.26 | 2.287 × 10-62 | 1.76 (1.65–1.88) | 27.5 |
| rs2201862 | T/C | 0.23 | -MECOM | 0.316 | 0.87 (0.66 - 1.15) | -8.3 | 0.345 | 0.85 (0.61 - 1.19) | -10.5 | 0.796 | 0.94 (0.59 - 1.50) | -1.4 | 0.752 | 0.87 (0.38 - 2.02) | 0.3 | 0.48 | 4.075 × 10-10 | 0.84 (0.80–0.89) | 14.3 |
| rs9376092 | A/C | 0.26 | HBS1L-MYB | 0.654 | 1.06 (0.83 - 1.34) | -0.4 | 0.532 | 1.09 (0.82 - 1.45) | 0.6 | 0.912 | 0.98 (0.64 - 1.50) | -2.8 | 0.101 | 1.77 (0.89 - 3.53) | 35.6 | 0.27 | 5.547 × 10-7 | 1.16 (1.09–1.23) | 6.9 |
| rs2736100 | C/A | 0.41 | TERT | 3.115 × 10-6 | 1.64 (1.33 - 2.02) | 28.6 | 8.624 × 10-7 | 1.88 (1.45 - 2.42) | 37.0 | 0.301 | 1.22 (0.84 - 1.78) | 7.6 | 0.444 | 1.30 (0.66 - 2.55) | 17.0 | 0.51 | 3.667 × 10-26 | 1.51 (1.40–1.63) | 42.7 |
Abbreviations: CI, confident interval; MPN, myeloproliferative neoplasm; OR, odds ratio; PAR, population attributable risks; RAF, risk allele frequency; SNP, single nucleotide polymorphism.
*Risk-associated/non-risk-associated alleles.
#RAF for healthy controls was used to calculate the PAR.
†Two cases and one case of JAK2V617F-positive essential thrombocythemia were absent in rs12343867 and rs2201862 groups, respectively due to lack of genomic DNA.
§The information was from another JAK2 46/1 tagged SNP rs12340895 instead of rs12343867.
P values were analyzed using Pearson χ2-test (two-tailed) or Fisher's exact test (two-tailed).