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Table 2 Genotype-specific association of SNPs from the JAK2 locus in MPN

From: The C allele of JAK2 rs4495487 is an additional candidate locus that contributes to myeloproliferative neoplasm predisposition in the Japanese population

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)
  1. P based on chi-square test. Asterisks indicate statistically significant values.
  2. Genotype was divided into three groups. Major: no existence of minor allele; Hetero: existence of one minor allele; Homo: existence of two minor alleles.