RGD Reference Report - Association of factor V Leiden, Janus kinase 2, prothrombin, and MTHFR mutations with primary Budd-Chiari syndrome in Egyptian patients. - Rat Genome Database

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Association of factor V Leiden, Janus kinase 2, prothrombin, and MTHFR mutations with primary Budd-Chiari syndrome in Egyptian patients.

Authors: El Sebay, HM  Safan, MA  Daoud, AA  Tayel, SI  Nouh, MA  El Shafie, S 
Citation: El Sebay HM, etal., J Gastroenterol Hepatol. 2016 Jan;31(1):235-40. doi: 10.1111/jgh.13066.
RGD ID: 11537993
Pubmed: PMID:26238013   (View Abstract at PubMed)
DOI: DOI:10.1111/jgh.13066   (Journal Full-text)

BACKGROUND AND AIM: 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. CONCLUSION: 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.



RGD Manual Disease Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
F5MouseBudd-Chiari syndrome disease_progressionISOF5 (Homo sapiens)DNA:missense mutation:cds:R506Q (human)RGD 
F5RatBudd-Chiari syndrome disease_progressionISOF5 (Homo sapiens)DNA:missense mutation:cds:R506Q (human)RGD 
F5HumanBudd-Chiari syndrome disease_progressionIAGP DNA:missense mutation:cds:R506Q (human)RGD 
MTHFRHumanBudd-Chiari syndrome susceptibilityIAGP DNA:SNPs: :DNA:SNPs: :677C>T and 1298A>C(human)RGD 
MthfrRatBudd-Chiari syndrome susceptibilityISOMTHFR (Homo sapiens)DNA:SNPs: :DNA:SNPs: :677C>T and 1298A>C(human)RGD 
MthfrMouseBudd-Chiari syndrome susceptibilityISOMTHFR (Homo sapiens)DNA:SNPs: :DNA:SNPs: :677C>T and 1298A>C(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
F5  (coagulation factor V)
Mthfr  (methylenetetrahydrofolate reductase)

Genes (Mus musculus)
F5  (coagulation factor V)
Mthfr  (methylenetetrahydrofolate reductase)

Genes (Homo sapiens)
F5  (coagulation factor V)
MTHFR  (methylenetetrahydrofolate reductase)


Additional Information