Table 2 Genotype–phenotype correlations in MF patients

From: The -2518 A/G polymorphism of the monocyte chemoattractant protein-1 as a candidate genetic predisposition factor for secondary myelofibrosis and biomarker of disease severity

 

No. of cases

A/A

A/G + G/G

P [O.R., 95% C.I.]

Disease type

 PMF, n (%)

45

31 (68.9)

14 (31.1)

P = 0.0008 vs. sMF

[6.23; 2.04–19.32]

 Pre-PMF, n (%)

12

11 (91.7)

1 (8.3)

P = 0.0002 vs. sMF

[31.17; 3.29–295.35]

P = 0.07 vs. overtPMF

 Overt-PMF, n (%)

33

20 (60.6)

13 (39.4)

P = 0.011 vs. sMF

[4.36; 1.36–13.95]

 sMF n (%)

23

6 (26.1)

17 (73.9)

P = 0.022 vs. CTRL

[3.07; 1.14–8.32]

Age

 Median (range), years

68

69.0 (29–84)

70.0 (30–86)

P = 0.61

 >65 years, n (%)

46

25 (54.4)

21 (45.6)

P = 0.99

Gender

 Male, n (%)

41

21 (51.2)

20 (48.8)

P = 0.51

 Female, n (%)

27

16 (59.3)

11 (40.7)

IPSS

 Low/intermediate-1, n (%)

42

28 (66.7)

14 (33.3)

P = 0.0078

[4.29; 1.42–12.91]

 Intermediate-2/high, n (%)

22

7 (31.8)

15 (68.2)

Hemoglobin

 Median (range), g/L

62

12.7 (5–15.9)

11.7 (7.3–15.5)

P = 0.062

 <100 g/L, n (%)

13

4 (30.8)

9 (69.2)

P = 0.036

[3.89; 1.04–14.41]

WBC

 Median (range), x109/L

62

9.2 (3.9–57.8)

12.1 (2.9–57.0)

P = 0.78

 <4 × 109/ L or >25 × 109/L, n (%)

7

3 (42.9)

4 (57.1%)

P = 0.44

Platelets

 Median (range), ×109/L

60

560 (99–1322)

376 (69–984)

P = 0.10

LDH

 Median (range), U/L

59

622 (205–1620)

751 (343–1580)

P = 0.22

 >Normal range, n (%)

47

26 (55.3)

21 (44.7)

P = 0.85

Constitutional symptoms

 Yes, n (%)

47

7 (41.8)

10 (58.8)

P = 0.19

 No, n (%)

17

28 (59.6)

19 (40.4)

Circulating blasts

 <1%, n (%)

53

33 (62.3)

20 (37.4)

P = 0.014

[6.6; 1.27–34.23]

 ≥1%, n (%)

10

2 (20.0)

8 (80.0)

Grading of fibrosis

 0–I, n (%)

29

20 (69.0)

9 (31.0)

P = 0.048

[2.78; 0.99–7.43]

 ≥II, n (%)

36

16 (44.4)

20 (55.6)

Spleen (long. Ø by US)

 median (range), cm

68

14.0 (7.5–30)

17.0 (10–30)

P = 0.1

JAK2V617F mutation

 Positive, n (%)

40

21 (52.5)

19 (47.5)

P = 0.44

 Negative, n (%)

19

12 (63.2)

7 (36.8)

Major thrombotic events

 Yes, n (%)

22

11 (50.0)

11 (50.0)

P = 0.55

 No, n (%)

45

26 (57.8)

19 (42.2)

  1. Statistically significant associations are highlighted in bold, and relative Odds ratio (O.R.) and 95% Confidence Interval (C.I.) are reported
  2. Age, IPSS risk category, leukocytes, hemoglobin, platelets, presence of blasts, LDH constitutional symptoms and spleen size refer to the time of diagnosis. “No. of cases” (second column) refers to: (i) for non-continuous variables, the no. of patients presenting the indicated parameter (i.e., no. of JAK2V617 positive and negative patients); (ii) for continuous variables, the no. of patients evaluated for that parameter (i.e., age at the time of diagnosis).
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