RGD Reference Report - Analysis of inherited thrombophilic mutations and natural anticoagulant deficiency in patients with idiopathic portal hypertension. - Rat Genome Database

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Analysis of inherited thrombophilic mutations and natural anticoagulant deficiency in patients with idiopathic portal hypertension.

Authors: Bayan, K  Tuzun, Y  Yilmaz, S  Canoruc, N  Dursun, M 
Citation: Bayan K, etal., J Thromb Thrombolysis. 2009 Jul;28(1):57-62. doi: 10.1007/s11239-008-0244-8. Epub 2008 Aug 7.
RGD ID: 10755472
Pubmed: (View Article at PubMed) PMID:18685811
DOI: Full-text: DOI:10.1007/s11239-008-0244-8

Idiopathic portal hypertension (IPH) is characterized by non-cirrhotic presinusoidal intrahepatic portal hypertension. The etiopathogenesis of the disease is poorly understood. Obliteration with microthrombosis of the small portal vein branches may lead to lesions underlying portal hypertension. We aimed to put forward a comprehensive thrombophilic mutation profile in IPH and its probable contribution to pathogenesis. Eleven patients and 12 controls were included. We used the CVD-StripAssay which is based on the reverse-hybridization principle to identify a total of 12 thrombophilic gene mutations: Factor V R506Q, Factor V H1299R, prothrombin G20210A, Factor XIII V34L, beta-Fibrinogen -455 G-A, PAI-1 4G/5G, platelet GPIIIa L33P, MTHFR C677T, MTHFR A1298C, ACE I/D, Apo B R3500Q and Apo E2/E3/E4, respectively. We also evaluated some blood parameters and protein C, protein S, AT-III levels using commercially available assays. IPH patients and controls were similar in respect to gender distribution (P = 1.000). Mean age was 31.2 in patients and 29.1 in controls (P = 0.622). Pica history was present in 54.5% of the patients. Mean protein C and AT-III levels were lower in patients than that of controls (P = 0.002 and 0.001, respectively). Factor XIII V34L, PAI-1, GPIIIa L33P, MTHFR C677T and MTHFR A1298C frequencies of genetic polymorphisms were found to be significantly higher among patients than that of controls. Apolipoprotein E2/E3/E4 analysis showed an inverse relationship with IPH when E2 plus E4 compared with E3. A higher frequency of Beta-Fibrinogen -455G-A mutation was observed in patients, but this difference did not reach a statistical significance. Our data represent the most comprehensive study to date with respect to thrombophilic gene polymorphisms in IPH. The data support a possible pathogenetic role in IPH, at least by some of the prothrombotic mutations. In order to confirm or refuse this proposal, a larger cohort of patients is needed.

Disease Annotations    
Banti's Syndrome  (IAGP,ISO)

Objects Annotated

Genes (Rattus norvegicus)
Itgb3  (integrin subunit beta 3)
Mthfr  (methylenetetrahydrofolate reductase)
Serpine1  (serpin family E member 1)

Genes (Mus musculus)
Itgb3  (integrin beta 3)
Mthfr  (methylenetetrahydrofolate reductase)
Serpine1  (serine (or cysteine) peptidase inhibitor, clade E, member 1)

Genes (Homo sapiens)
ITGB3  (integrin subunit beta 3)
MTHFR  (methylenetetrahydrofolate reductase)
SERPINE1  (serpin family E member 1)

Additional Information