Table 2

Association between the JAK2 46/1 haplotype and patients with Budd-Chiari syndrome and portal vein thrombosis

Nrs12343867 genotype
C allele frequencyP*Odds ratio (95% CI)†
Odds ratio (95% CI)‡
CCCTTTCT vs TTCC vs TTCT vs TTCC vs TT
Controls 100 7 (7) 40 (40) 53 (53) 0.27      
Splanchnic vein thrombosis           
    Overall 199 23 (12) 83 (42) 93 (47) 0.32 .18 1.2 (0.7-2.0) 2.0 (0.8-4.9) 1.4 (0.8-2.6) 2.1 (0.7-5.9) 
    JAK2V617F-positive 54 (27) 9 (17) 28 (52) 17 (31) 0.43 < .01 2.1 (1.01-4.5) 4.1 (1.3-13.2) 2.7 (1.2-6.2) 4.7 (1.3-16.7) 
    JAK2V617F-negative, MPNs present 12 (6) 4 (33) 3 (25) 5 (42) 0.46 .06 0.6 (0.1-2.9) 5.3 (1.1-26.2) 0.8 (0.2-4.0) 5.1 (0.9-28.5) 
    JAK2V617F-negative, MPNs absent 133 (67) 10 (8) 52 (39) 71 (5) 0.27 .98 1.0 (0.6-1.7) 1.1 (0.4-3.2) 1.2 (0.6-2.2) 1.1 (0.3-3.6) 
Budd-Chiari syndrome           
    Overall 107 16 (15) 46 (43) 45 (42) 0.36 .04 1.4 (0.8-2.4) 2.7 (1.01-7.1) 1.6 (0.8-3.1) 2.7 (0.9-8.2) 
    JAK2V617F-positive 34 (32) 7 (21) 16 (47) 11 (32) 0.44 .01 1.9 (0.8-4.5) 4.8 (1.4-16.6) 2.0 (0.7-5.4) 5.3 (1.4-20.6) 
    JAK2V617F-negative 73 (68) 9 (12) 30 (41) 34 (47) 0.33 .24 1.2 (0.6-2.2) 1.9 (0.7-5.8) 1.4 (0.7-2.9) 1.8 (0.5-6.2) 
Portal vein thrombosis           
    Overall 92 7 (8) 37 (40) 48 (52) 0.28 .88 1.0 (0.5-1.8) 1.3 (0.4-4.4) 1.1 (0.5-2.3) 1.4 (0.4-5.3) 
    JAK2V617F-positive 20 (22) 2 (10) 12 (60) 6 (30) 0.40 .10 2.6 (0.9-7.6) 3.1 (0.5-20.2) 4.0 (1.2-13.7) 3.8 (0.5-27.6) 
    JAK2V617F-negative 72 (78) 5 (7) 25 (35) 42 (58) 0.24 .57 0.7 (0.3-1.4) 0.9 (0.2-3.6) 0.7 (0.3-1.6) 0.9 (0.2-4.2) 
Nrs12343867 genotype
C allele frequencyP*Odds ratio (95% CI)†
Odds ratio (95% CI)‡
CCCTTTCT vs TTCC vs TTCT vs TTCC vs TT
Controls 100 7 (7) 40 (40) 53 (53) 0.27      
Splanchnic vein thrombosis           
    Overall 199 23 (12) 83 (42) 93 (47) 0.32 .18 1.2 (0.7-2.0) 2.0 (0.8-4.9) 1.4 (0.8-2.6) 2.1 (0.7-5.9) 
    JAK2V617F-positive 54 (27) 9 (17) 28 (52) 17 (31) 0.43 < .01 2.1 (1.01-4.5) 4.1 (1.3-13.2) 2.7 (1.2-6.2) 4.7 (1.3-16.7) 
    JAK2V617F-negative, MPNs present 12 (6) 4 (33) 3 (25) 5 (42) 0.46 .06 0.6 (0.1-2.9) 5.3 (1.1-26.2) 0.8 (0.2-4.0) 5.1 (0.9-28.5) 
    JAK2V617F-negative, MPNs absent 133 (67) 10 (8) 52 (39) 71 (5) 0.27 .98 1.0 (0.6-1.7) 1.1 (0.4-3.2) 1.2 (0.6-2.2) 1.1 (0.3-3.6) 
Budd-Chiari syndrome           
    Overall 107 16 (15) 46 (43) 45 (42) 0.36 .04 1.4 (0.8-2.4) 2.7 (1.01-7.1) 1.6 (0.8-3.1) 2.7 (0.9-8.2) 
    JAK2V617F-positive 34 (32) 7 (21) 16 (47) 11 (32) 0.44 .01 1.9 (0.8-4.5) 4.8 (1.4-16.6) 2.0 (0.7-5.4) 5.3 (1.4-20.6) 
    JAK2V617F-negative 73 (68) 9 (12) 30 (41) 34 (47) 0.33 .24 1.2 (0.6-2.2) 1.9 (0.7-5.8) 1.4 (0.7-2.9) 1.8 (0.5-6.2) 
Portal vein thrombosis           
    Overall 92 7 (8) 37 (40) 48 (52) 0.28 .88 1.0 (0.5-1.8) 1.3 (0.4-4.4) 1.1 (0.5-2.3) 1.4 (0.4-5.3) 
    JAK2V617F-positive 20 (22) 2 (10) 12 (60) 6 (30) 0.40 .10 2.6 (0.9-7.6) 3.1 (0.5-20.2) 4.0 (1.2-13.7) 3.8 (0.5-27.6) 
    JAK2V617F-negative 72 (78) 5 (7) 25 (35) 42 (58) 0.24 .57 0.7 (0.3-1.4) 0.9 (0.2-3.6) 0.7 (0.3-1.6) 0.9 (0.2-4.2) 

Values are n (%) unless otherwise specified.

MPNs indicates myeloproliferative neoplasms.

*

P for C-allele frequency comparisons.

†

Adjusted for age and sex.

‡

Adjusted for Factor V Leiden mutation, prothrombin G2021A variant, age, and sex.

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