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DOI 10.1038/ng.3745

Медицинская библиотека · Nature genetics · 2016

Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease.

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, UK-PSC Consortium, International IBD Genetics Consortium, International PSC Study Group, Rushbrook Simon M, Franke Andre, Karlsen Tom H, Lazaridis Konstantinos N, Anderson Carl A

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Аннотация

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 the protective allele (C) predicted to cause nonstop-mediated mRNA decay and lower expression of UBASH3A. Further analyses based on common variants suggested that the genome-wide genetic correlation (rG) between PSC and ulcerative colitis (UC) (rG = 0.29) was significantly greater than that between PSC and Crohn's disease (CD) (rG = 0.04) (P = 2.55 × 10-15). UC and CD were genetically more similar to each other (rG = 0.56) than either was to PSC (P < 1.0 × 10-15). Our study represents a substantial advance in understanding of the genetics of PSC.

Для цитирования: 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, UK-PSC Consortium, International IBD Genetics Consortium, International PSC Study Group, Rushbrook Simon M, Franke Andre, Karlsen Tom H, Lazaridis Konstantinos N, Anderson Carl A. Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease.. Nature genetics. 2016. DOI: 10.1038/ng.3745.

Предметные рубрики MeSH

Adaptor Proteins, Signal TransducingAllelesCholangitis, SclerosingColitis, UlcerativeGenome-Wide Association StudyHumansInflammatory Bowel DiseasesPolymorphism, Single NucleotideRNA, MessengerRisk Factors
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