Low frequency of factor V Leiden and prothrombin G20210A mutations in patients with hepatic venous outflow tract obstruction in northern India: a case-control study.

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dc.contributor.authorKumar, Sirish Ien_US
dc.contributor.authorKumar, Ashishen_US
dc.contributor.authorSrivastava, Srikanten_US
dc.contributor.authorSaraswat, Vivek Aen_US
dc.contributor.authorAggarwal, Rakeshen_US
dc.date.accessioned2005-09-20en_US
dc.date.accessioned2009-05-29T01:59:45Z
dc.date.available2005-09-20en_US
dc.date.available2009-05-29T01:59:45Z
dc.date.issued2005-09-20en_US
dc.description.abstractBACKGROUND: Factor V Leiden (FVL) and prothrombin gene (G20210A) mutations are known to be associated with venous thromboembolism. Several studies have shown an association of these mutations with hepatic venous outflow tract obstruction (HVOTO). We studied the prevalence of these mutations among patients with HVOTO in northern India in comparison with healthy population. METHODS: Genomic DNA from patients with HVOTO and healthy controls was analyzed for the presence of FVL and prothrombin gene G20210A mutations, using PCR and restriction-fragment length polymorphism. RESULTS: Fifty-nine patients with HVOTO (age 5-69 years, median 27; 39 male) and 49 unrelated healthy controls from the same geographic region were studied. Of the 59 patients, 19 had a block in the hepatic vein, 7 in inferior vena cava, and 33 had mixed block. Presentation was with acute thrombosis in 9 patients and with long-standing obstruction in 50 patients. Among 49 controls, heterozygous and homozygous FVL mutations were observed in 2 and 0 subjects, respectively, with an allele frequency of 2% (2 of 98). In comparison, among 59 patients with HVOTO, four had heterozygous and none had homozygous FVL mutation, with an allele frequency of 3.4% (p=ns versus controls). The G20210A prothrombin gene mutation was not found in any of the patients or controls. CONCLUSION: FVL and prothrombin G20210A mutations appear to have no role in the pathogenesis of HVOTO in our patients with Budd-Chiari syndrome, consisting largely of those with long-standing obstruction of the inferior vena cava.en_US
dc.description.affiliationDepartment of Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow.en_US
dc.identifier.citationKumar SI, Kumar A, Srivastava S, Saraswat VA, Aggarwal R. Low frequency of factor V Leiden and prothrombin G20210A mutations in patients with hepatic venous outflow tract obstruction in northern India: a case-control study. Indian Journal of Gastroenterology. 2005 Sep-Oct; 24(5): 211-5en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/63608
dc.language.isoengen_US
dc.source.urihttps://www.indianjgastro.comen_US
dc.subject.meshAdolescenten_US
dc.subject.meshAdulten_US
dc.subject.meshAgeden_US
dc.subject.meshBudd-Chiari Syndrome --ethnologyen_US
dc.subject.meshCase-Control Studiesen_US
dc.subject.meshChilden_US
dc.subject.meshFactor V --geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshIndia --epidemiologyen_US
dc.subject.meshMaleen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshMutationen_US
dc.subject.meshProthrombin --geneticsen_US
dc.titleLow frequency of factor V Leiden and prothrombin G20210A mutations in patients with hepatic venous outflow tract obstruction in northern India: a case-control study.en_US
dc.typeJournal Articleen_US
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