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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.
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BMC Medical Genetics

ISSN: 1471-2350

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