Table 2.
Genotype-specific association of SNPs from the JAK2 locus in MPN
| Case population | Control population | SNP | P | Genotype¶ | Odds ratio (95% CI) | |||
|---|---|---|---|---|---|---|---|---|
| Major | Hetero | Homo | Major vs Hetero | Major vs Homo | ||||
| JAK2 V617F-positive PV | Healthy volunteers | rs10974944 | 0.0126* | CC | CG | GG | 2.75 (1.06-7.14)* | 4.24 (1.51-11.92)* |
| (n = 33) | Japanese (n = 107) | rs4495487 | < 0.0001* | TT | TC | CC | 4.26 (1.56-11.61)* | 11.31 (3.60-35.57)* |
| rs12343867 | 0.0032* | TT | TC | CC | 2.26 (0.88-5.77) | 5.683 (1.98-16.35)* | ||
| JAK2 V617F-positive ET | Healthy volunteers | rs10974944 | 0.0371* | CC | CG | GG | 2.42 (1.20-4.92)* | 1.10 (0.40-3.02) |
| (n = 57) | Japanese (n = 107) | rs4495487 | 0.0009* | TT | TC | CC | 3.97 (1.86-8.49)* | 4.00 (1.44-11.14)* |
| rs12343867 | 0.0013* | TT | TC | CC | 3.52 (1.68-7.38)* | 3.55 (1.33-9.52)* | ||
| JAK2 V617F-negative ET | Healthy volunteers | rs10974944 | 0.068 | CC | CG | GG | 2.58 (1.14-5.84)* | 1.49 (0.50-4.46) |
| (n = 39) | Japanese (n = 107) | rs4495487 | 0.0097* | TT | TC | CC | 3.28 (1.45-7.43)* | 3.05 (0.95-9.58) |
| rs12343867 | 0.112 | TT | TC | CC | 2.26 (1.01-5.04)* | 2.08 (0.67-6.40) | ||
| JAK2 V617F-positive MPN | Healthy volunteers | rs10974944 | 0.0138* | CC | CG | GG | 2.42 (1.29-4.55)* | 2.24 (1.03-4.88)* |
| (PV, ET, and PMF, n = 95) | Japanese (n = 107) | rs4495487 | < 0.0001* | TT | TC | CC | 4.08 (2.13-7.84)* | 6.88 (2.88-16.41)* |
| rs12343867 | 0.0002* | TT | TC | CC | 2.89 (1.53-5.45)* | 5.54 (2.35-13.06)* | ||
| JAK2 V617F-negative MPN | Healthy volunteers | rs10974944 | 0.1961 | CC | CG | GG | 2.01 (0.92-4.37) | 1.14 (0.39-3.37) |
| (PV, ET, and PMF, n = 43) | Japanese (n = 107) | rs4495487 | 0.024* | TT | TC | CC | 2.79 (1.28-6.08)* | 2.48 (0.78-7.80) |
| rs12343867 | 0.3069 | TT | TC | CC | 1.78 (0.82-3.84) | 1.63 (0.58-4.94) | ||
| JAK2 V617F-positive MPN | JAK2 V617F-negative MPN | rs10974944 | 0.5493 | CC | CG | GG | 1.21 (0.55-2.66) | 1.82 (0.70-5.35) |
| (PV, ET, and PMF, n = 95) | (PV, ET and PMF, n = 43) | rs4495487 | 0.1762 | TT | TC | CC | 1.46 (0.66-3.31) | 2.78 (0.93-6.29) |
| rs12343867 | 0.1572 | TT | TC | CC | 1.62 (0.72-3.61) | 2.71 (0.93-7.90) | ||
P based on chi-square test. Asterisks indicate statistically significant values.
¶Genotype was divided into three groups. Major: no existence of minor allele; Hetero: existence of one minor allele; Homo: existence of two minor alleles.