RGD Reference Report - Hyperhomocysteinaemia and factor V Leiden mutation are associated with Budd-Chiari syndrome. - Rat Genome Database

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Hyperhomocysteinaemia and factor V Leiden mutation are associated with Budd-Chiari syndrome.

Authors: Colak, Yusuf  Karasu, Zeki  Oruc, Nevin  Can, Cenk  BalĂ˝m, Zuhal  Akarca, Ulussalih  Gunsar, Fulya  Ersoz, Galip  Tokat, Yaman  Batur, Yucel 
Citation: Colak Y, etal., Eur J Gastroenterol Hepatol. 2006 Aug;18(8):917-20.
RGD ID: 14700661
Pubmed: (View Article at PubMed) PMID:16825912

OBJECTIVES: Budd-Chiari syndrome (BCS) is characterized by hepatic venous outflow obstruction and may be caused by various prothrombotic disorders. We aimed to study the role of hyperhomocysteinaemia, factor V Leiden mutation and G20210A prothrombin gene mutation in the pathogenesis of the syndrome.
METHODS: Thirty-two patients (16 male, 16 female, aged 19-45 years) with angiographically verified BCS and 33 age-matched and sex-matched voluntary healthy controls (15 male, 18 female, aged 19-45 years) were included into the study. Factor V Leiden and prothrombin gene mutations were determined in extracted DNA from peripheric mononuclear cells, using a light cycler amplification system. Plasma homocysteine levels were measured by fluorescence polarization immunoassay.
RESULTS: The homozygote factor V Leiden mutation was diagnosed in four BCS patients and the heterozygote mutation was diagnosed in five. The frequency of the mutant allele was 20.3% in BCS patients and 7.6% in the controls (P < 0.05). There was no significant difference in prothrombin gene mutation frequency between the two groups. Serum homocysteine levels were significantly higher in the BCS group than in the controls (16.4 +/- 8.8 vs 11.0 +/- 2.7 micromol/l; P < 0.01). BCS patients with the mutant factor V Leiden allele have significantly higher levels of serum homocysteine (22.1 +/- 13.3 vs 14.4 +/- 5.9 mumol/l; P < 0.05).
CONCLUSIONS: Hyperhomocysteinaemia, especially when associated with the factor V Leiden mutation, is an important risk factor for the development of BCS.


Disease Annotations    
Budd-Chiari syndrome  (IAGP,ISO)

Phenotype Annotations    

Human Phenotype
Objects Annotated

Genes (Rattus norvegicus)
F5  (coagulation factor V)

Genes (Mus musculus)
F5  (coagulation factor V)

Genes (Homo sapiens)
F5  (coagulation factor V)

Additional Information