Table 3 Distribution of single nucleotide variants (SNVs) in MPN patients stratified by JAK2 V617F status and variant allele frequency.

From: Exploring hematological alterations and genetics linked to SNV rs10974944 in myeloproliferative neoplasms among Amazon patients

Genotype/

allele

JAK2V617F status

JAK2V617F_VAF

 

JAK2V617F+(n = 45)

JAK2V617F- (n = 48)

OR (IC 95%)

p-valor

 ≥ 50% (n = 20)

 < 50% (n = 25)

OR (95% IC)

p-valor

rs10974944*; n (%)

CC

9 (20)

24 (50)

0.24(0.10–0.61)

0.002

2 (10)

7 (28)

0.3 (0.05–1.6)

0.26

CC vs CG

CG

18 (37.8)

18 (37.5)

1.07

(0.47–2.46)

0.87

3 (15)

14 (56)

0.14(0.03–0.60)

0.0062

CC vs GG/CG

GG

19 (42.2)

6 (12.5)

4.9 (1.8–13.9)

0.0016

15 (75)

4 (16)

15.8 (3.6–68.7)

 < 0.0001

CC vs GG

C

35 (38.9)

66 (68.7)

3.4 (1.9–6.2)

 < 0.0001

7 (17.5)

28 (56)

6 (2.1–14.8)

0.0002

C vs G

G

55 (61.1)

30 (31.2)

33 (82.5)

22 (44)

rs10119004; n (%)

AA

27 (60.0)

20 (41.6)

2.1 (0.9–4.8)

0.077

16 (80)

11 (44)

5.1 (1.3–19.6)

0.017

AA vs AG

AG

15 (33.3)

21 (43.8)

0.64 (0.3–1.5)

0.302

3 (15)

12 (48)

0.2 (0.04–0.82)

0.027

AA vs CC/AG

GG

3 (6.7)

7 (14.6)

0.4 (0.1–1.7)

0.381

1 (5)

2 (8)

0.6 (0.05–7.2)

 > 0.99

AA vs GG

A

69 (76.6)

61 (67.8)

2.1 (1.1–3.9)

0.025

35 (87.5)

34 (68)

3.3 (1.1–10.0)

0.043

A vs G

G

21 (23.4)

38 (42.2)

5 (12.5)

16 (32)

rs10815151; n (%)

CC

33 (73.4)

24 (50)

2.8 (1.2–6.6)

0.021

17 (85)

16 (64)

3.2 (0.7–13.9)

0.176

CC vs CT

CT

7 (15.5)

20 (41.7)

0.3 (0.1–0.7)

0.0056

2 (10)

5 (20)

0.4 (0.1–2.6)

0.436

CC vs TT/CT

TT

5 (11.1)

4 (8.3)

1.5 (0.4–6.0)

0.734

1 (5)

4 (16)

0.3 (0.03–2.7)

0.362

CC vs TT

C

73 (81)

68 (70.8)

1.8 (0.9–3.5)

0.1019

63 (90)

37 (74)

5.5 (1.7–18.2)

0.0032

C vs T

T

17 (19)

28 (29.2)

4 (10)

13 (26)

  1. VAF Variant allele frequency. *In linkage disequilibrium with haplotype 46/1.
  2. Significant values are in bold.
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