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Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis
David C. Whitcomb, Jessica LaRusch, Alyssa M. Krasinskas, Lambertus Klei, Jill P. Smith, Randall E. Brand, John P. Neoptolemos, Markus M. Lerch, Matt Tector, Bimaljit S. Sandhu, Nalini M. Guda, Lidiya Orlichenko, Samer Alkaade, Stephen T. Amann, Michelle A. Anderson, John Baillie, Peter A. Banks, Darwin Conwell, Gregory A. Coté, Peter B. Cotton, James DiSario, Lindsay A. Farrer, Chris E. Forsmark, Marianne Johnstone, Timothy B. Gardner, Andres Gelrud, William Greenhalf, Jonathan L. Haines, Douglas J. Hartman, Robert A. Hawes, Christopher Lawrence, Michele Lewis, Julia Mayerle, Richard Mayeux, Nadine M. Melhem, Mary E. Money, Thiruvengadam Muniraj, Georgios I. Papachristou, Margaret A. Pericak-Vance, Joseph Romagnuolo, Gerard D. Schellenberg, Stuart Sherman, Peter Simon, Vijay P. Singh, Adam Slivka, Donna Stolz, Robert Sutton, Frank Ulrich Weiss, C. Mel Wilcox, Narcis Octavian Zarnescu, Stephen R. Wisniewski, Michael R. O'Connell, Michelle L. Kienholz, Kathryn Roeder & M. Micha Barmada
Abstract
Pancreatitis is a complex, progressively destructive inflammatory disorder. Alcohol was long thought to be the primary causative agent, but genetic contributions have been of interest since the discovery that rare PRSS1, CFTR and SPINK1 variants were associated with pancreatitis risk. We now report two associations at genome-wide significance identified and replicated at PRSS1-PRSS2 and X-linked CLDN2 through a two-stage genome-wide study. The PRSS1 variant likely affects disease susceptibility by altering expression of the primary trypsinogen gene. The CLDN2 risk allele is associated with atypical localization of claudin-2 in pancreatic acinar cells. The homozygous CLDN2 genotype confers the greatest risk, and its alleles interact with alcohol consumption to amplify risk. These results could partially explain the high frequency of alcohol-related pancreatitis in men. © 2012 Nature America, Inc. All rights reserved.Author Profiles
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