title: Association of factor V Leiden, Janus kinase 2, prothrombin, and MTHFR mutations with primary Budd-Chiari syndrome in Egyptian patients.
abstract: OBJECTIVE
  Budd-Chiari syndrome (BCS) is defined as obstruction of hepatic venous outflow anywhere from the small hepatic veins to the suprahepatic inferior vena cava. The pathogenesis of BCS is still not fully understood. This study aimed to evaluate the association of factor V Leiden (FVL), Janus kinase 2 (JAK2), prothrombin, and methylene tetrahydrofolate reductase (MTHFR) mutations with primary BCS.
  
  
  METHODS
  The study was carried out on 35 patients with primary BCS and 15 age and gender matched healthy individuals as a control group. Genotyping of FVL, prothrombin, and MTHFR mutations was determined by GENEQUALITY AB-THROMBO TYPE kit based on the reverse hybridization principle. JAK2 mutation was determined by polymerase chain reaction-restriction fragment length polymorphism.
  
  
  RESULTS
  There was a statistically significant difference between patients and controls regarding FVL, MTHFR C677T, and MTHFR A1298C mutations with odds ratio of 1.83, 2.0, and 1.79, respectively. Hetero MTHFR C677T, hetero FVL, and hetero MTHFR A1298C were the most common etiological factors being responsible for 57.1, 42.9, and 42.9% of primary BCS cases, respectively.
  
  
  CONCLUSIONS
  It could be concluded that BCS is a multifactorial disease; in the current study, MTHFR C677T mutation was the most common cause of disease. Identification of one cause of BCS should not eliminate investigations for detection of other etiological factors.
authors.affiliation: Department of Medical Biochemistry; Faculty of Medicine, Menoufia University, Shibin El Kom, Egypt.
authors.forename: Hatem M
authors.initials: HM
authors.lastname: El Sebay
authors.affiliation: Department of Medical Biochemistry; Faculty of Medicine, Menoufia University, Shibin El Kom, Egypt.
authors.forename: Manal A
authors.initials: MA
authors.lastname: Safan
authors.affiliation: Department of Medical Biochemistry; Faculty of Medicine, Menoufia University, Shibin El Kom, Egypt.
authors.forename: Ashraf A
authors.initials: AA
authors.lastname: Daoud
authors.affiliation: Department of Medical Biochemistry; Faculty of Medicine, Menoufia University, Shibin El Kom, Egypt.
authors.forename: Safaa I
authors.initials: SI
authors.lastname: Tayel
authors.affiliation: Department of Tropical Medicine, Faculty of Medicine, Menoufia University, Shibin El Kom, Egypt.
authors.forename: Mohamed A
authors.initials: MA
authors.lastname: Nouh
authors.affiliation: Department of Medical Biochemistry; Faculty of Medicine, Menoufia University, Shibin El Kom, Egypt.
authors.forename: Shymaa
authors.initials: S
authors.lastname: El Shafie
mesh_terms: D000328:Adult; D006502:Budd-Chiari Syndrome / Q000235:genetics*; D004534:Egypt; D005165:Factor V / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009154:Mutation; D011516:Prothrombin / Q000235:genetics*
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D053614:Janus Kinase 2
keywords: BCS; JAK2; MTHFR; factor V Leiden; prothrombin