Article
Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease.
Nature genetics - 1 Feb 2017
Ji Sun-Gou, Juran Brian D, Mucha Sören, Folseraas Trine, Jostins Luke, Melum Espen, Kumasaka Natsuhiko, Atkinson Elizabeth J, Schlicht Erik M, Liu Jimmy Z, Shah Tejas, Gutierrez-Achury Javier, Boberg Kirsten M, Bergquist Annika, Vermeire Severine, Eksteen Bertus, Durie Peter R, Farkkila Martti, Müller Tobias, Schramm Christoph, Sterneck Martina, Weismüller Tobias J, Gotthardt Daniel N, Ellinghaus David, Braun Felix, Teufel Andreas, Laudes Mattias, Lieb Wolfgang, Jacobs Gunnar, Beuers Ulrich, Weersma Rinse K, Wijmenga Cisca, Marschall Hanns-Ulrich, Milkiewicz Piotr, Pares Albert, Kontula Kimmo, Chazouillères Olivier, Invernizzi Pietro, Goode Elizabeth, Spiess Kelly, Moore Carmel, Sambrook Jennifer, Ouwehand Willem H, Roberts David J, Danesh John, Floreani Annarosa, Gulamhusein Aliya F, Eaton John E, Schreiber Stefan, Coltescu Catalina, Bowlus Christopher L, Luketic Velimir A, Odin Joseph A, Chopra Kapil B, Kowdley Kris V, Chalasani Naga, Manns Michael P, Srivastava Brijesh, Mells George, Sandford Richard N, Alexander Graeme, Gaffney Daniel J, Chapman Roger W, Hirschfield Gideon M, de Andrade Mariza, Rushbrook Simon M, Franke Andre, Karlsen Tom H, Lazaridis Konstantinos N, Anderson Carl A
Abstract excerpt
Primary sclerosing cholangitis (PSC) is a rare progressive disorder leading to bile duct destruction; ∼75% of patients have comorbid inflammatory bowel disease (IBD). We undertook the largest genome-wide association study of PSC (4,796 cases and 19,955 population controls) and identified four new genome-wide significant loci. The most associated SNP at one locus affects splicing and expression of UBASH3A, with...
Read the complete abstract on PubMed