Is the SPINK1 variant p.N34S overrepresented in patients with acute pancreatitis?

Maiken Thyregod Jøergensen, Klaus Brusgaard, Srdan Novovic, Anders Møller Andersen, Mark Berner Hansen, Anne-Marie Gerdes, Ove Bent Schaffalitzky de Muckadell

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    7 Citationer (Scopus)

    Abstract

    Serine Protease Inhibitor Kazal type 1 (SPINK1) protects against premature intracellular activation of trypsinogen and development of acute pancreatitis. Our aim was to determine the prevalence of SPINK1 mutations (a) in unselected patients with first-time acute pancreatitis and (b) in the Danish background population (c) in a meta-analysis to combine the results with findings in similar investigations worldwide and (d) to evaluate whether patients with SPINK1 mutations had a more severe clinical course.
    OriginalsprogEngelsk
    TidsskriftEuropean Journal of Gastroenterology and Hepatology
    Vol/bind24
    Udgave nummer3
    Sider (fra-til)309-15
    Antal sider7
    ISSN0954-691X
    DOI
    StatusUdgivet - 2012

    Bibliografisk note

    Author(s): Joergensen, MT (Joergensen, Maiken Thyregod)[ 1 ] ; Brusgaard, K (Brusgaard, Klaus)[ 2 ] ; Novovic, S (Novovic, Srdan)[ 4 ] ; Andersen, AM (Andersen, Anders Moller)[ 4 ] ; Hansen, MB (Hansen, Mark Berner)[ 4,5 ] ; Gerdes, AM (Gerdes, Anne-Marie)[ 2,3 ] ; de Muckadell, OBS (de Muckadell, Ove Bent Schaffalitzky)[ 1 ]
    1 ] Univ So Denmark, Dept Med Gastroenterol S, Odense Univ Hosp, DK-5000 Odense C, Denmark
    [ 2 ] Univ So Denmark, Dept Clin Genet, Odense Univ Hosp, DK-5000 Odense C, Denmark
    [ 3 ] Univ Copenhagen, Rigshosp, Dept Clin Genet, DK-2100 Copenhagen, Denmark
    [ 4 ] Univ Copenhagen, Bispebjerg Hosp, Dept Surg K, Copenhagen, Denmark
    [ 5 ] AstraZeneca Res & Dev, Molndal, Sweden

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