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  Balým, 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: PMID:16825912   (View Abstract at PubMed)


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.



RGD Manual Disease Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
F5MouseBudd-Chiari syndrome severityISOF5 (Homo sapiens)associated with hyperhomocysteinemia:DNA:missense mutation:cds: (R506Q) (human)RGD 
F5HumanBudd-Chiari syndrome severityIAGP associated with hyperhomocysteinemia:DNA:missense mutation:cds: (R506Q) (human)RGD 
F5RatBudd-Chiari syndrome severityISOF5 (Homo sapiens)associated with hyperhomocysteinemia:DNA:missense mutation:cds: (R506Q) (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
F5HumanHyperhomocystinemia severityIAGP associated with hyperhomocysteinemia:DNA:missense mutation:cds: (R506Q) (human)RGD 
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