title: Associations of coagulation factor V Leiden and prothrombin G20210A mutations with Budd-Chiari syndrome and portal vein thrombosis: a systematic review and meta-analysis.
abstract: OBJECTIVE
  We conducted a systematic review and meta-analysis to evaluate the associations of the coagulation factor V (encoded by F5) Leiden (FVL) or prothrombin (encoded by F2) G20210A mutation with Budd-Chiari syndrome or portal vein thrombosis (PVT).
  
  
  METHODS
  Relevant articles were identified in searches of the PubMed, EMBASE, Cochrane Library, and ScienceDirect databases. The prevalence of the FVL and prothrombin G20210A mutations were compared between patients with Budd-Chiari syndrome or PVT without cirrhosis and healthy individuals (controls) and between patients with cirrhosis, with and without PVT. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated.
  
  
  RESULTS
  We initially identified 869 articles, and included 27 in our final analysis. Compared with controls, patients with Budd-Chiari syndrome had a significantly higher prevalence of the FVL mutation (OR, 6.21; 95% CI, 3.93-9.79) and a similar prevalence of the prothrombin G20210A mutation (OR, 1.90; 95% CI, 0.69-5.23); patients with PVT without cirrhosis had a significantly higher prevalence of the FVL mutation (OR, 1.85; 95% CI, 1.09-3.13) or the prothrombin G20210A mutation (OR, 5.01; 95% CI, 3.03-8.30). Compared with patients with cirrhosis without PVT, patients with cirrhosis and PVT had a significantly higher prevalence of the FVL mutation (OR, 2.55; 95% CI, 1.29-5.07). We observed a trend toward a higher prevalence of the prothrombin G20210A mutation in patients with cirrhosis and PVT, but the difference was not statistically significant (OR, 2.93; 95% CI, 0.94-9.07).
  
  
  CONCLUSIONS
  Based on a meta-analysis, the FVL mutation is associated with an increased risk of Budd-Chiari syndrome, PVT without cirrhosis, and PVT in cirrhosis. The prothrombin G20210A mutation is associated with PVT, but not Budd-Chiari syndrome. Studies are needed to confirm these findings in different racial and ethnic groups.
authors.affiliation: Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China; Department of Gastroenterology, No. 463 Hospital of Chinese People's Liberation Army, Shenyang, China.
authors.forename: Xingshun
authors.initials: X
authors.lastname: Qi
authors.affiliation: Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China.
authors.forename: Weirong
authors.initials: W
authors.lastname: Ren
authors.affiliation: Institute of Hematology, Catholic University, Rome, Italy.
authors.forename: Valerio
authors.initials: V
authors.lastname: De Stefano
authors.affiliation: Xijing Hospital of Digestive Diseases, Fourth Military Medical University, Xi'an, China. Electronic address: fandaim@fmmu.edu.cn.
authors.forename: Daiming
authors.initials: D
authors.lastname: Fan
mesh_terms: D006502:Budd-Chiari Syndrome / Q000453:epidemiology* / Q000235:genetics; D005165:Factor V / Q000235:genetics*; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D011169:Portal Vein / Q000473:pathology*; D011516:Prothrombin / Q000235:genetics*; D013927:Thrombosis / Q000453:epidemiology* / Q000235:genetics
chemical_list: D005165:Factor V; D011516:Prothrombin
keywords: Blood; Genetic; Risk Factor; Venous Thromboembolism