The JAK2 46/1 haplotype (GGCC) in myeloproliferative neoplasms and splanchnic vein thrombosis: a pooled analysis of 26 observational studies

被引:15
作者
Li, Sheng-li [1 ]
Zhang, Pei-jin [2 ]
Sun, Gui-xiang [2 ]
Lu, Zhao-jun [2 ]
机构
[1] Xu Zhou Med Coll, Affiliated Hosp, Stat Off Informat Ctr, Xuzhou 221006, Peoples R China
[2] Xuzhou Med Coll, Sch Publ Hlth, Xuzhou 221004, Peoples R China
基金
中国国家自然科学基金;
关键词
The JAK2 46/1 haplotype; Myeloproliferative neoplasms; Splanchnic vein thrombosis; Meta-analysis; Budd-Chiari syndrome; BUDD-CHIARI-SYNDROME; JAK2V617F ALLELE BURDEN; JANUS KINASE 2; ESSENTIAL THROMBOCYTHEMIA; CONFERS SUSCEPTIBILITY; POLYCYTHEMIA-VERA; INCREASED RISK; TET2; GENE; MUTATION; PREDISPOSITION;
D O I
10.1007/s00277-014-2134-9
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Numbers of observational studies suggest that the JAK2 46/1 (GGCC) haplotype may increase the risk of myeloproliferative neoplasms (MPNs) and splanchnic vein thrombosis (SVT), but the results remain controversial. We aimed to examine the association between the JAK2 46/1 haplotype and risk of MPNs and SVT by conducting a meta-analysis. PubMed, EMBASE, Cochrane Library, CBM, and CNKI databases were searched to identify eligible studies without restrictions and by reviewing reference lists of obtained articles. Both fixed and random-effects models were used to calculate the summary risk estimates. We identified 26 observational studies of the JAK2 46/1 haplotype and risk of MPNs and SVT involving 8,561 cases and 7,434 participants. In the overall analysis, it was found that the JAK2 46/1 haplotype significantly elevated the risk of MPNs (rs10974944: C vs T: odds ratio (OR) = 2.19, 95 % confidence interval (CI) = 1.86-2.57, P < 0.0001; CC vs TT: OR = 4.63, 95 % CI = 3.32-6.47, P < 0.0001; CT vs TT: OR = 2.49, 95 % CI = 2.11-2.95, P < 0.0001; (CC + CT) vs TT: OR = 2.92, 95 % CI = 2.51-3.39, P < 0.0001; rs12343867: C vs T: OR = 1.88, 95 % CI = 1.59-2.22, P < 0.0001; CC vs TT: OR = 3.16, 95 %CI = 2.14-4.65, P < 0.0001; CT vs TT: OR = 2.04, 95 % CI = 1.51-2.74, P < 0.0001; (CC + CT) vs TT: OR = 2.25, 95 % CI = 1.73-2.95, P < 0.0001) and SVT (C vs T: OR = 1.27, 95 % CI = 1.06-1.52, P = 0.011; CC vs TT: OR = 2.33, 95 % CI = 1.42-3.81, P = 0.001; (CC + CT) vs TT: OR = 1.25, 95 % CI = 1.02-1.53, P = 0.034). There was no evidence of a significant association between the rs12343867 and the risk of SVT in the genetic model (CT vs TT: OR = 1.01, 95 % CI = 0.80-1.29, P = 0.906). This meta-analysis provides new evidence supporting the conclusion that the JAK2 46/1 haplotype enrichment is significantly associated with the development of MPNs and SVT in these patients.
引用
收藏
页码:1845 / 1852
页数:8
相关论文
共 59 条
[1]   Influence of JAK2 46/1 haplotype in the natural evolution of JAK2V617F allele burden in patients with myeloproliferative neoplasms [J].
Alvarez-Larran, Alberto ;
Angona, Anna ;
Martinez-Aviles, Luz ;
Bellosillo, Beatriz ;
Besses, Carlos .
LEUKEMIA RESEARCH, 2012, 36 (03) :324-326
[2]   JAK2 46/1 haplotype analysis in myeloproliferative neoplasms and acute myeloid leukemia [J].
Andrikovics, H. ;
Nahajevszky, S. ;
Koszarska, M. ;
Meggyesi, N. ;
Bors, A. ;
Halm, G. ;
Lueff, S. ;
Lovas, N. ;
Matrai, Z. ;
Csomor, J. ;
Rasonyi, R. ;
Egyed, M. ;
Varkonyi, J. ;
Mikala, G. ;
Sipos, A. ;
Kozma, A. ;
Adam, E. ;
Fekete, S. ;
Masszi, T. ;
Tordai, A. .
LEUKEMIA, 2010, 24 (10) :1809-1813
[3]  
[Anonymous], THESIS LINKOPING U M
[4]   Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders [J].
Baxter, EJ ;
Scott, LM ;
Campbell, PJ ;
East, C ;
Fourouclas, N ;
Swanton, S ;
Vassiliou, GS ;
Bench, AJ ;
Boyd, EM ;
Curtin, N ;
Scott, MA ;
Erber, WN ;
Green, AR .
LANCET, 2005, 365 (9464) :1054-1061
[5]   Somatic and germline genetics at the JAK2 locus [J].
Campbell, Peter J. .
NATURE GENETICS, 2009, 41 (04) :385-386
[6]   The JAK2 rs12343867 CC genotype frequently occurs in patients with splanchnic venous thrombosis without the JAK2V617F mutation: a retrospective study [J].
Colaizzo, D. ;
Tiscia, G. L. ;
Bafunno, V. ;
Amitrano, L. ;
Vergura, P. ;
Grandone, E. ;
Guardascione, M. A. ;
Margaglione, M. .
JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2010, 8 (02) :413-416
[7]   Sex modulation of the occurrence of jak2 v617f mutation in patients with splanchnic venous thrombosis [J].
Colaizzo, Donatella ;
Tiscia, Giovanni Luca ;
Bafunno, Valeria ;
Amitrano, Lucio ;
Vergura, Patrizia ;
Lupone, Maria Rosaria ;
Grandone, Elvira ;
Guardascione, Maria Anna ;
Margaglione, Maurizio .
THROMBOSIS RESEARCH, 2011, 128 (03) :233-236
[8]   Splanchnic vein thrombosis: clinical presentation, risk factors and treatment [J].
De Stefano, Valerio ;
Martinelli, Ida .
INTERNAL AND EMERGENCY MEDICINE, 2010, 5 (06) :487-494
[9]   JAK2V617F mutation for the early diagnosis of Ph- myeloproliferative neoplasms in patients with venous thromboembolism: a meta-analysis [J].
Dentali, Francesco ;
Squizzato, Alessandro ;
Brivio, Lorenza ;
Appio, Lorena ;
Campiotti, Leonardo ;
Crowther, Mark ;
Grandi, Anna Maria ;
Ageno, Walter .
BLOOD, 2009, 113 (22) :5617-5623
[10]   Bias in meta-analysis detected by a simple, graphical test [J].
Egger, M ;
Smith, GD ;
Schneider, M ;
Minder, C .
BMJ-BRITISH MEDICAL JOURNAL, 1997, 315 (7109) :629-634