IDEAS home Printed from https://ideas.repec.org/a/plo/pone00/0058734.html
   My bibliography  Save this article

A Frequent PNPLA3 Variant Is a Sex Specific Disease Modifier in PSC Patients with Bile Duct Stenosis

Author

Listed:
  • Kilian Friedrich
  • Christian Rupp
  • Johannes Roksund Hov
  • Niels Steinebrunner
  • Karl-Heinz Weiss
  • Adolf Stiehl
  • Maik Brune
  • Petra Kloeters Yvonne Schaefer
  • Peter Schemmer
  • Peter Sauer
  • Peter Schirmacher
  • Heiko Runz
  • Tom Hemming Karlsen
  • Wolfgang Stremmel
  • Daniel Nils Gotthardt

Abstract

Background & Aims: Primary sclerosing cholangitis predominantly affects males and is an important indication for liver transplantation. The rs738409 variant (I148M) of the PNPLA3 gene is associated with alcoholic and non-alcoholic liver disease and we evaluated its impact on the disease course of PSC. Methods: The I148M polymorphism was genotyped in 121 German PSC patients of a long-term prospective cohort and 347 Norwegian PSC patients. Results: In the prospective German cohort, actuarial survival free of liver transplantation was significantly reduced for I148M carriers (p = 0.011) compared to wildtype patients. This effect was restricted to patients with severe disease, as defined by development of dominant stenosis (DS) requiring endoscopic intervention. DS patients showed markedly decreased survival (p = 0.004) when carrying the I148M variant (I148M: mean 13.8 years; 95% confidence interval: 11.6–16.0 vs. wildtype: mean 18.6 years; 95% confidence interval: 16.3–20.9) while there was no impact on survival in patients without a DS (p = 0.87). In line with previous observations of sex specific effects of the I148M polymorphism, the effect on survival was further restricted to male patients (mean survival 11.9 years; 95% confidence interval: 10.0–14.0 in I148M carriers vs. 18.8 years; 95% confidence interval: 16.2–21.5 in wildtype; p

Suggested Citation

  • Kilian Friedrich & Christian Rupp & Johannes Roksund Hov & Niels Steinebrunner & Karl-Heinz Weiss & Adolf Stiehl & Maik Brune & Petra Kloeters Yvonne Schaefer & Peter Schemmer & Peter Sauer & Peter Sc, 2013. "A Frequent PNPLA3 Variant Is a Sex Specific Disease Modifier in PSC Patients with Bile Duct Stenosis," PLOS ONE, Public Library of Science, vol. 8(3), pages 1-7, March.
    • Handle: RePEc:plo:pone00:0058734
    DOI: 10.1371/journal.pone.0058734
    as

    Download full text from publisher

    File URL: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0058734
    Download Restriction: no
    File URL: https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0058734&type=printable
    Download Restriction: no
    File URL: https://libkey.io/10.1371/journal.pone.0058734?utm_source=ideas
    LibKey link: if access is restricted and if your library uses this service, LibKey will redirect you to where you can use your library subscription to access this item
    ---><---

    More about this item

    Statistics

    Access and download statistics

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:plo:pone00:0058734. See general information about how to correct material in RePEc.

    If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.

    We have no bibliographic references for this item. You can help adding them by using this form .

    If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: plosone (email available below). General contact details of provider: https://journals.plos.org/plosone/ .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.