title: Thrombophilic gene mutations in cirrhotic patients with portal vein thrombosis.
abstract: OBJECTIVE
  Thrombophilic gene mutations have been reported to be associated with the formation of portal vein thrombosis (PVT). This study aimed to investigate the role of thrombophilic gene mutations in cirrhotic patients with PVT.
  
  
  METHODS
  A total of 74 cirrhotic patients (17 with PVT, 57 without PVT), and 19 non-cirrhotic patients with PVT and 80 healthy controls were included. Factor V Leiden G1691A, prothrombin G20210A and methylenetetrahydrofolate reductase C677T mutations were analysed by restriction fragment length polymorphism.
  
  
  RESULTS
  Aetiologies and Child-Pugh distribution of cirrhotic patients with and without PVT were similar. Five of 17 (29%) of cirrhotic patients with PVT but only two of 57 (3.5%) of cirrhotics without PVT, five of 80 (6%) of controls and none of the 19 non-cirrhotic patients with PVT had factor V Leiden G1691A mutation (P<0.05). Prothrombin G20210A mutation was found in five (29%) cirrhotic patients with PVT while only two (3.5%) cirrhotic patients without PVT, one (5%) non-cirrhotic patient with PVT and two (2.5%) controls had this mutation (P<0.05). The frequency of the homozygote methylenetetrahydrofolate reductase 677C-T mutation was similar in all four groups.
  
  
  CONCLUSIONS
  Inherited thrombophilic gene mutations appear to increase the risk of PVT formation in cirrhotic patients but not in patients without liver disease in a cohort of Turkish patients.
authors.affiliation: Institute of Hepatology, Ankara University, Ankara, Turkey.
authors.forename: Ozlem
authors.initials: O
authors.lastname: Erkan
authors.forename: Abdurrahman M
authors.initials: AM
authors.lastname: Bozdayi
authors.forename: Selcuk
authors.initials: S
authors.lastname: Disibeyaz
authors.forename: Dilek
authors.initials: D
authors.lastname: Oguz
authors.forename: Muhit
authors.initials: M
authors.lastname: Ozcan
authors.forename: Kadir
authors.initials: K
authors.lastname: Bahar
authors.forename: Selim
authors.initials: S
authors.lastname: Karayalcin
authors.forename: Ali
authors.initials: A
authors.lastname: Ozden
authors.forename: Hakan
authors.initials: H
authors.lastname: Bozkaya
authors.forename: Cihan
authors.initials: C
authors.lastname: Yurdaydin
authors.forename: Ozden
authors.initials: O
authors.lastname: Uzunalimoglu
mesh_terms: D000328:Adult; D000990:Antithrombin III / Q000032:analysis; D005165:Factor V / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D008103:Liver Cirrhosis / Q000150:complications / Q000235:genetics*; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length; D011169:Portal Vein; D011446:Prospective Studies; D011486:Protein C / Q000032:analysis; D017293:Protein S / Q000032:analysis; D011516:Prothrombin / Q000235:genetics; D019851:Thrombophilia / Q000150:complications / Q000235:genetics*; D020246:Venous Thrombosis / Q000150:complications / Q000235:genetics*
chemical_list: D011486:Protein C; D017293:Protein S; C095381:factor V Leiden; D000990:Antithrombin III; D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)