Table 3. Comparison of the minor allele frequency of the 5 SNPs in MPN patients.
| SNP | Gene | Alleles* | PV MAF (n=54) | ET MAF (n=109†) | MF MAF (n=15) | PV vs. ET | PV vs. MF | ET vs. MF | PV vs. ET vs. MF | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P value | OR (95% CI) | P value | OR (95% CI) | P value | OR (95% CI) | P value | ||||||
| rs12343867 | JAK2 46/1 | C/T | 0.63 | 0.42 | 0.47 | <0.001 | 2.39 (1.48-3.84) | 0.108 | 1.94 (0.86-4.40) | 0.598 | 0.81 (0.38-1.75) | 0.001 |
| rs12339666 | JAK2 intron 8 | T/G | 0.66 | 0.42 | 0.53 | <0.001 | 2.63 (1.63-4.25) | 0.213 | 1.68 (0.74-3.81) | 0.249 | 0.64 (0.30-1.37) | <0.001 |
| rs2201862 | -MECOM | T/C | 0.15 | 0.21 | 0.37 | 0.179 | 0.65 (0.35-1.22) | 0.008 | 0.30 (0.12-0.75) | 0.056 | 0.46 (0.20-1.04) | 0.030 |
| rs9376092 | HBS1L-MYB | A/C | 0.18 | 0.31 | 0.30 | 0.009 | 0.47 (0.27-0.83) | 0.135 | 0.50 (0.20-1.26) | 0.895 | 1.06 (0.46-2.43) | 0.031 |
| rs2736100 | TERT | C/A | 0.56 | 0.52 | 0.47 | 0.429 | 1.21 (0.76-1.92) | 0.340 | 1.48 (0.66-3.34) | 0.595 | 1.23 (0.57-2.64) | 0.571 |
CI, confident interval; ET, essential thrombocythemia; MAF, minor allele frequency; MPN, myeloproliferative neoplasm; MF; myelofibrosis; PV, polycythemia vera; OR, odds ratio; SNP, single nucleotide polymorphism.
*Risk-associated/non-risk-associated alleles.
†Two cases and one case with ET were absent in rs12343867 group and rs2201862 group, respectively due to lack of sample.
P values were analyzed using Pearson χ2-test (two-tailed).